ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1290-7del

dbSNP: rs1006647820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678345 SCV001895738 benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073184 SCV002442040 benign Dystonic disorder 2025-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260305 SCV002539157 benign Dystonia 24 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001678345 SCV005435955 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing ANO3: BP4, BS2

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