ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.2077A>G (p.Met693Val)

gnomAD frequency: 0.00006  dbSNP: rs138331141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660371 SCV000782443 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660371 SCV001005730 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544921 SCV004786901 likely benign SCN3A-related disorder 2022-02-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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