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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

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 34

Gene

GeneSubmissionsLast Updated
ACVRL11Sep 26, 2022
BMPR27Sep 26, 2022
EIF2AK43Sep 26, 2022
ENG2Sep 26, 2022
GDF23Sep 26, 2022
KCNA55Sep 26, 2022
KCNK31Sep 26, 2022
LOC1027235661Sep 26, 2022
NOTCH15Sep 26, 2022
NOTCH35Sep 26, 2022
SMAD41Sep 26, 2022
TOPBP11Sep 26, 2022

Condition

NameSubmissionsLast Updated
Pulmonary arterial hypertension34Sep 26, 2022

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 22 tests
Andersen Tawil syndrome1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Brugada syndrome3 tests
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Caveolinopathy1 test
Charcot-Marie-Tooth disease type 2B11 test
Danon disease1 test
Desmin-related myofibrillar myopathy1 test
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1I2 tests
Ectopia lentis 1, isolated, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Familial aortopathy1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial thoracic aortic aneurysm and aortic dissection3 tests
Holt-Oram syndrome1 test
Hutchinson-Gilford syndrome2 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Isolated Nonsyndromic Congenital Heart Disease/Defects1 test
Leigh Syndrome (nuclear DNA mutation)1 test
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Long QT syndrome 91 test
MASS syndrome1 test
Mandibuloacral dysplasia1 test
Marfan syndrome1 test
Myofibrillar myopathy 41 test
Noncompaction of left ventricular myocardium, familial isolated1 test
Primary pulmonary hypertension1 test
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
SUDDEN INFANT DEATH SYNDROME1 test
Telangiectasia, hereditary hemorrhagic, type 13 tests
X-linked Emery-Dreifuss muscular dystrophy1 test