ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.60+8C>A

gnomAD frequency: 0.41434  dbSNP: rs3742654
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000145449 SCV007315504 benign not specified 2022-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668284 SCV005291064 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001668284 SCV003339322 benign not provided 2026-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001668284 SCV001891864 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554610 SCV001775874 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554609 SCV001775873 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145449 SCV000192533 benign not specified 2013-04-08 criteria provided, single submitter clinical testing

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