ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.61-85T>C

dbSNP: rs1285844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554607 SCV001775871 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554608 SCV001775872 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing

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