John Welsh Cardiovascular Diagnostic Laboratory (Baylor College of Medicine)
General information
John Welsh Cardiovascular Diagnostic Laboratory
Baylor College of Medicine
Houston
Texas
United States - 77030
http://www.bcm.tmc.edu/pediatrics/welsh
Organization ID: 209129
Baylor College of Medicine
Houston
Texas
United States - 77030
http://www.bcm.tmc.edu/pediatrics/welsh
Organization ID: 209129
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 34
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Pulmonary arterial hypertension | 34 | Sep 26, 2022 |
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 2 tests |
Andersen Tawil syndrome | 1 test |
Aortic aneurysm, familial thoracic 4 | 1 test |
Aortic aneurysm, familial thoracic 6 | 1 test |
Arrhythmogenic right ventricular cardiomyopathy | 1 test |
Arrhythmogenic right ventricular dysplasia 1 | 1 test |
Arrhythmogenic right ventricular dysplasia 10 | 1 test |
Arrhythmogenic right ventricular dysplasia 11 | 1 test |
Arrhythmogenic right ventricular dysplasia 12 | 1 test |
Arrhythmogenic right ventricular dysplasia 2 | 1 test |
Arrhythmogenic right ventricular dysplasia 5 | 1 test |
Arrhythmogenic right ventricular dysplasia 8 | 1 test |
Arrhythmogenic right ventricular dysplasia 9 | 1 test |
Brugada syndrome | 3 tests |
Brugada syndrome 1 | 1 test |
Brugada syndrome 2 | 1 test |
Brugada syndrome 3 | 1 test |
Brugada syndrome 4 | 1 test |
Brugada syndrome 5 | 1 test |
Brugada syndrome 6 | 1 test |
Brugada syndrome 7 | 1 test |
Brugada syndrome 8 | 1 test |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 2 | 1 test |
Caveolinopathy | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Danon disease | 1 test |
Desmin-related myofibrillar myopathy | 1 test |
Dilated cardiomyopathy 1A | 2 tests |
Dilated cardiomyopathy 1C | 1 test |
Dilated cardiomyopathy 1I | 2 tests |
Ectopia lentis 1, isolated, autosomal dominant | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
Familial aortopathy | 1 test |
Familial partial lipodystrophy, Dunnigan type | 1 test |
Familial thoracic aortic aneurysm and aortic dissection | 3 tests |
Holt-Oram syndrome | 1 test |
Hutchinson-Gilford syndrome | 2 tests |
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 test |
Isolated Nonsyndromic Congenital Heart Disease/Defects | 1 test |
Leigh Syndrome (nuclear DNA mutation) | 1 test |
Loeys-Dietz syndrome | 1 test |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Long QT syndrome 9 | 1 test |
MASS syndrome | 1 test |
Mandibuloacral dysplasia | 1 test |
Marfan syndrome | 1 test |
Myofibrillar myopathy 4 | 1 test |
Noncompaction of left ventricular myocardium, familial isolated | 1 test |
Primary pulmonary hypertension | 1 test |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia | 1 test |
SUDDEN INFANT DEATH SYNDROME | 1 test |
Telangiectasia, hereditary hemorrhagic, type 1 | 3 tests |
X-linked Emery-Dreifuss muscular dystrophy | 1 test |