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GRCh37/hg19 9q34.11(chr9:130581787-130582459) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002280654.1

Allele description [Variation Report for GRCh37/hg19 9q34.11(chr9:130581787-130582459)]

GRCh37/hg19 9q34.11(chr9:130581787-130582459)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q34.11
Genomic location:
Chr9: 130581787 - 130582459 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q34.11(chr9:130581787-130582459)

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568919Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023