ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)

gnomAD frequency: 0.00002  dbSNP: rs555224775
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001528933 SCV001676093 likely benign not provided 2024-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001528933 SCV001769917 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842043 SCV002053705 likely benign Cardiac arrhythmia 2021-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384762 SCV002694286 likely benign Cardiovascular phenotype 2021-06-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health RCV001842043 SCV004814549 likely benign Cardiac arrhythmia 2023-12-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528933 SCV001741532 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699792 SCV001925016 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528933 SCV001932891 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528933 SCV001969426 likely benign not provided no assertion criteria provided clinical testing

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