ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2673G>A (p.Ser891=) (rs191092709)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084985 SCV000262089 benign Brugada syndrome 8 2020-11-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000395833 SCV000336915 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000395833 SCV000513217 benign not specified 2015-05-01 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.
Ambry Genetics RCV000619228 SCV000735667 benign Cardiovascular phenotype 2016-06-15 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000206573 SCV001144128 benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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