ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.384C>T (p.Ala128=)

gnomAD frequency: 0.00003  dbSNP: rs771177632
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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 RCV001457679 SCV001661483 likely benign Parkinsonism-dystonia, infantile 2024-06-24 criteria provided, single submitter clinical testing

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