ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.3966+12G>A

gnomAD frequency: 0.56935  dbSNP: rs3742656
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145439 SCV000192523 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554599 SCV001775863 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554600 SCV001775864 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001682845 SCV001900629 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001682845 SCV003781695 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682845 SCV005291024 benign not provided criteria provided, single submitter not provided

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