ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1290-14del

dbSNP: rs376265231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552538 SCV001773241 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072054 SCV002447750 benign Dystonic disorder 2024-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260195 SCV002539154 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing

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