ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) (rs200575377)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180274 SCV000223491 benign not specified 2016-09-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180274 SCV000232674 benign not specified 2014-11-25 criteria provided, single submitter clinical testing
Invitae RCV000711888 SCV000288905 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620478 SCV000735705 benign Cardiovascular phenotype 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711888 SCV000842299 likely benign not provided 2018-02-06 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852707 SCV000995421 benign Long QT syndrome 2018-05-15 criteria provided, single submitter clinical testing

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