ClinVar Miner

Submissions for variant NM_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys)

dbSNP: rs1554258695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000625744 SCV000746267 likely pathogenic Infantile-onset generalized dyskinesia with orofacial involvement 2017-01-01 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995599 SCV001149871 pathogenic Striatal degeneration, autosomal dominant 2 2018-06-11 criteria provided, single submitter clinical testing

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