ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)

gnomAD frequency: 0.00035  dbSNP: rs28363072
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861772 SCV001002171 benign Parkinsonism-dystonia, infantile 2025-01-09 criteria provided, single submitter clinical testing

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