ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.456C>T (p.Val152=)

gnomAD frequency: 0.00034  dbSNP: rs147399016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862146 SCV001002607 likely benign Parkinsonism-dystonia, infantile 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918334 SCV004745985 likely benign SLC6A3-related disorder 2019-05-09 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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