ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5376G>A (p.Leu1792=)

dbSNP: rs1488076050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811245 SCV000951502 likely benign Brugada syndrome 2024-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000826937 SCV000968536 likely benign not provided 2018-05-02 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.

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