ClinVar Miner

Submissions for variant NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=)

gnomAD frequency: 0.00005  dbSNP: rs777377892
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 RCV000873365 SCV001015345 likely benign Parkinsonism-dystonia, infantile 2022-07-15 criteria provided, single submitter clinical testing

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