ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3187C>A (p.Pro1063Thr) (rs535227661)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477327 SCV000541549 likely benign Brugada syndrome 8 2020-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620330 SCV000738132 likely benign Cardiovascular phenotype 2019-02-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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