ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2916C>T (p.Pro972=)

gnomAD frequency: 0.00002  dbSNP: rs559422705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620448 SCV000737697 likely benign Cardiovascular phenotype 2016-08-25 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.
Invitae RCV000647261 SCV000769050 likely benign Brugada syndrome 8 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506504 SCV002811326 likely benign Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935729 SCV004756410 likely benign HCN4-related condition 2019-06-06 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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