ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=)

gnomAD frequency: 0.00763  dbSNP: rs73969174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713088 SCV000554224 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713088 SCV000843656 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539958 SCV004786727 likely benign SCN3A-related disorder 2019-04-02 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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