ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.336C>A (p.Arg112=)

dbSNP: rs794726951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173512 SCV000224632 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636559 SCV000757998 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312705 SCV000846723 likely benign Inborn genetic diseases 2016-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000173512 SCV004162816 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing HCN1: BP4, BP7

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