ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.2275+20dup

gnomAD frequency: 0.02341  dbSNP: rs146445511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002114364 SCV002447592 benign Dystonic disorder 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260417 SCV002539172 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing

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