ClinVar Miner

Submissions for variant NM_001385079.1(PDE10A):c.1890-19T>C

gnomAD frequency: 0.70008  dbSNP: rs220749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518374 SCV001727051 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788566 SCV002029473 benign Infantile-onset generalized dyskinesia with orofacial involvement 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788567 SCV002029474 benign Striatal degeneration, autosomal dominant 2 2021-09-05 criteria provided, single submitter clinical testing

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