ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2904G>A (p.Pro968=)

gnomAD frequency: 0.00016  dbSNP: rs368145651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698110 SCV000724957 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Invitae RCV001416071 SCV001618241 likely benign Brugada syndrome 8 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438593 SCV002752371 likely benign Cardiovascular phenotype 2019-03-04 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 RCV002498937 SCV002794683 likely benign Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 2021-10-12 criteria provided, single submitter clinical testing

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