ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1635C>T (p.Pro545=)

gnomAD frequency: 0.00024  dbSNP: rs140015730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827502 SCV000969153 likely benign not provided 2022-01-13 criteria provided, single submitter clinical testing
Invitae RCV001082835 SCV001009559 likely benign Brugada syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399839 SCV002707926 likely benign Cardiovascular phenotype 2022-09-02 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 RCV003918290 SCV004728512 likely benign HCN4-related condition 2019-05-22 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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