ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.375G>A (p.Arg125=)

gnomAD frequency: 0.00001  dbSNP: rs772708278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500607 SCV001705399 likely benign Parkinsonism-dystonia, infantile 2023-05-22 criteria provided, single submitter clinical testing

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