ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5445C>T (p.Ser1815=)

gnomAD frequency: 0.00005  dbSNP: rs111535651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424495 SCV000532860 likely benign not specified 2016-10-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001466145 SCV001670144 likely benign Brugada syndrome 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348232 SCV002652274 likely benign Cardiovascular phenotype 2019-05-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424495 SCV005076027 likely benign not specified 2024-04-28 criteria provided, single submitter clinical testing

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