ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.346C>T (p.Pro116Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004812916 SCV005437817 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV004812916 SCV005829633 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing

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