ClinVar Miner

Submissions for variant NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) (rs56157422)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507676 SCV000605231 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247418 SCV000318140 likely benign Cardiovascular phenotype 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Subpopulation frequency in support of benign classification
Biesecker Lab/Human Development Section,National Institutes of Health RCV000171774 SCV000050786 likely benign Long QT syndrome 2013-06-24 criteria provided, single submitter research
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000191018 SCV000743435 likely benign Long QT syndrome 12 2016-07-08 criteria provided, single submitter clinical testing
Invitae RCV000171774 SCV000563491 likely benign Long QT syndrome 2018-01-04 criteria provided, single submitter clinical testing
OMIM RCV000191018 SCV000245994 pathogenic Long QT syndrome 12 2008-08-01 no assertion criteria provided literature only

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