ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1032+15C>T

gnomAD frequency: 0.00223  dbSNP: rs187545947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568731 SCV001792653 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072188 SCV002401800 benign Dystonic disorder 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260205 SCV002539110 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001568731 SCV005223714 likely benign not provided criteria provided, single submitter not provided

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