ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)

gnomAD frequency: 0.00084  dbSNP: rs201418838
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726615 SCV000345835 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000726615 SCV000529067 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Invitae RCV001086425 SCV000554482 likely benign Brugada syndrome 8 2024-01-22 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852706 SCV000995420 benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436127 SCV002754223 likely benign Cardiovascular phenotype 2018-11-02 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 RCV003957528 SCV004770478 likely benign HCN4-related condition 2023-11-14 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).
Clinical Genetics, Academic Medical Center RCV000726615 SCV001921928 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726615 SCV001975238 likely benign not provided no assertion criteria provided clinical testing

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