ClinVar Miner

Submissions for variant NM_152703.5(SAMD9L):c.3932A>T (p.Asp1311Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital of Duesseldorf RCV003127222 SCV003803727 uncertain significance Spinocerebellar ataxia 49 criteria provided, single submitter clinical testing

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