ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3033T>G (p.Ser1011=)

gnomAD frequency: 0.00864  dbSNP: rs186728422
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170935 SCV000223494 benign not specified 2014-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000170935 SCV000232680 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079992 SCV000262090 benign Brugada syndrome 8 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619411 SCV000735664 benign Cardiovascular phenotype 2015-09-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics RCV000204870 SCV001144129 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000204870 SCV004562157 benign not provided 2024-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000170935 SCV005202371 benign not specified 2024-07-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000204870 SCV005295408 benign not provided criteria provided, single submitter not provided
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000170935 SCV006067918 benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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