ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)

gnomAD frequency: 0.02526  dbSNP: rs150512553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV002515951 SCV005291014 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV002515951 SCV003245470 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554380 SCV001775611 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554379 SCV001775610 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145443 SCV000192527 benign not specified 2013-04-08 criteria provided, single submitter clinical testing

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