ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)

gnomAD frequency: 0.00001  dbSNP: rs577018955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488966 SCV000577512 uncertain significance not provided 2022-01-14 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000488966 SCV002499229 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing PM2, PP2
Invitae RCV000488966 SCV003019228 likely benign not provided 2023-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000488966 SCV003823192 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing

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