ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)

gnomAD frequency: 0.00001  dbSNP: rs537717251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001472446 SCV001676578 likely benign Brugada syndrome 8 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324055 SCV002606930 likely benign Cardiovascular phenotype 2021-01-29 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.
Fulgent Genetics, Fulgent Genetics RCV002495699 SCV002802651 likely benign Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 2021-08-16 criteria provided, single submitter clinical testing

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