ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.351G>A (p.Arg117=)

gnomAD frequency: 0.01954  dbSNP: rs372095163
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583365 SCV001812257 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001583365 SCV002448731 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253876 SCV002524698 benign Dyskinesia with orofacial involvement, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253877 SCV002524699 benign Dyskinesia with orofacial involvement, autosomal recessive 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253878 SCV002524700 benign Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001583365 SCV005264724 likely benign not provided criteria provided, single submitter not provided

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