ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2523G>A (p.Ser841=)

gnomAD frequency: 0.00001  dbSNP: rs768157473
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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) RCV000180276 SCV000232676 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
Invitae RCV000552390 SCV000648445 likely benign Brugada syndrome 8 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426863 SCV002742055 likely benign Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003967444 SCV004784204 likely benign HCN4-related condition 2019-08-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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