ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.870-7T>C

gnomAD frequency: 0.00220  dbSNP: rs138437878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862209 SCV001002687 benign Dystonic disorder 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001637999 SCV001849005 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260075 SCV002539077 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing

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