ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)

dbSNP: rs794726680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268891 SCV001448131 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000024052 SCV005664516 pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-01-10 criteria provided, single submitter clinical testing
OMIM RCV000024052 SCV000045343 pathogenic Autosomal recessive spinocerebellar ataxia 10 2010-12-10 no assertion criteria provided literature only

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