ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4854G>C (p.Pro1618=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003339199 SCV004059326 likely benign Cardiovascular phenotype 2023-07-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003679191 SCV004411952 likely benign not provided 2023-06-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011273 SCV004833481 likely benign Cardiac arrhythmia 2023-07-10 criteria provided, single submitter clinical testing

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