ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1294-3del

dbSNP: rs778730043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318704 SCV000444329 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000927239 SCV001072820 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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