ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) (rs186728422)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170935 SCV000223494 benign not specified 2014-06-19 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 RCV000170935 SCV000232680 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Invitae RCV001079992 SCV000262090 benign Brugada syndrome 8 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619411 SCV000735664 benign Cardiovascular phenotype 2015-09-28 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 RCV000204870 SCV001144129 benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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