ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.900C>G (p.Val300=)

dbSNP: rs1414137302
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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 RCV001712904 SCV001660697 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001712904 SCV001944436 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377765 SCV002686296 likely benign Cardiovascular phenotype 2019-04-16 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 RCV004007063 SCV004830293 likely benign Cardiac arrhythmia 2024-07-20 criteria provided, single submitter clinical testing

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