ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.207T>A (p.Pro69=)

gnomAD frequency: 0.00013  dbSNP: rs754282083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311932 SCV001502316 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Invitae RCV001311932 SCV001718012 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531096 SCV004743693 likely benign SCN3A-related disorder 2019-03-27 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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