ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.348A>G (p.Ser116=)

gnomAD frequency: 0.00080  dbSNP: rs138889073
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516967 SCV001725346 benign Dystonic disorder 2024-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000630721 SCV001985935 benign not provided 2021-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260034 SCV002539020 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing

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