ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) (rs61755997)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246067 SCV000320524 uncertain significance Cardiovascular phenotype 2015-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Center for Human Genetics, Inc RCV000660144 SCV000782138 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000787043 SCV000925959 pathogenic Aortic valve disorder 2006-07-14 no assertion criteria provided literature only

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