ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1476+1G>T

dbSNP: rs761213683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000024053 SCV005664512 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-02-22 criteria provided, single submitter clinical testing
OMIM RCV000024053 SCV000045344 pathogenic Autosomal recessive spinocerebellar ataxia 10 2010-12-10 no assertion criteria provided literature only

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