ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu)

gnomAD frequency: 0.00002  dbSNP: rs977221211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498890 SCV000590653 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing 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
Invitae RCV000498890 SCV004666405 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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