ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.4869C>G (p.Ile1623Met)

dbSNP: rs2470554565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223903 SCV003919389 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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