ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.848A>G (p.Asn283Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004574947 SCV005050145 uncertain significance Spinocerebellar ataxia 48 2024-06-11 criteria provided, single submitter clinical testing

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