ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.1381-4A>G

gnomAD frequency: 0.00053  dbSNP: rs199597878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316187 SCV000333390 uncertain significance not provided 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV000316187 SCV001009701 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542997 SCV004783892 likely benign SCN3A-related disorder 2024-02-12 criteria provided, single submitter 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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