ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.977-6T>C

gnomAD frequency: 0.00673  dbSNP: rs3802751
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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 RCV000461058 SCV000554660 benign Dystonic disorder 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001597143 SCV001831774 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259952 SCV002539088 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing

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