ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3837+8T>C

gnomAD frequency: 0.00027  dbSNP: rs372405305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539914 SCV000637143 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000610671 SCV000729930 likely benign not specified 2017-09-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000610671 SCV004020420 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003539914 SCV005878939 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing

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