ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.495C>T (p.His165=)

gnomAD frequency: 0.00004  dbSNP: rs1052784707
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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 RCV000865487 SCV001006464 likely benign Parkinsonism-dystonia, infantile 2023-10-11 criteria provided, single submitter clinical testing

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