ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)

gnomAD frequency: 0.00039  dbSNP: rs8179034
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861851 SCV001002261 benign Parkinsonism-dystonia, infantile 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507463 SCV002808596 likely benign Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome 2022-04-19 criteria provided, single submitter clinical testing

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