ClinVar Miner

Submissions for variant NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)

gnomAD frequency: 0.00134  dbSNP: rs140582739
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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 RCV000872368 SCV001014168 benign not provided 2023-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000872368 SCV001826272 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253641 SCV002524623 benign Dyskinesia with orofacial involvement, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253642 SCV002524624 benign Dyskinesia with orofacial involvement, autosomal recessive 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253643 SCV002524625 benign Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 2021-12-05 criteria provided, single submitter clinical testing

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