ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu)

gnomAD frequency: 0.00117  dbSNP: rs143905423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521983 SCV001731429 benign not provided 2024-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001521983 SCV001818921 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253837 SCV002524701 benign Dyskinesia with orofacial involvement, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253838 SCV002524702 benign Dyskinesia with orofacial involvement, autosomal recessive 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253839 SCV002524703 benign Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 2021-12-05 criteria provided, single submitter clinical testing

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