ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.130C>T (p.His44Tyr)

gnomAD frequency: 0.00096  dbSNP: rs189868197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870961 SCV001012542 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507514 SCV002802960 likely benign Dyskinesia with orofacial involvement, autosomal dominant; Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 2022-04-27 criteria provided, single submitter clinical testing

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