ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.546C>G (p.Pro182=) (rs571671463)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081299 SCV000288915 benign Brugada syndrome 8 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000274839 SCV000337462 benign not specified 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000274839 SCV000513213 benign not specified 2015-10-28 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 RCV000619534 SCV000737453 benign Cardiovascular phenotype 2015-11-02 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711895 SCV000842306 benign not provided 2018-02-19 criteria provided, single submitter clinical testing

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