ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=)

gnomAD frequency: 0.00013  dbSNP: rs115254960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001419230 SCV001621478 likely benign Parkinsonism-dystonia, infantile 2021-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928101 SCV004741512 likely benign SLC6A3-related disorder 2019-09-17 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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