ClinVar Miner

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

gnomAD frequency: 0.56935  dbSNP: rs3742656
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001682845 SCV005291024 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001682845 SCV003781695 benign not provided 2026-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001682845 SCV001900629 benign not provided 2021-05-10 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
Genome-Nilou Lab RCV001554599 SCV001775863 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145439 SCV000192523 benign not specified 2013-04-08 criteria provided, single submitter clinical testing

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