ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)

gnomAD frequency: 0.16963  dbSNP: rs45437097
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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 RCV000145419 SCV000192508 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554605 SCV001775869 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554606 SCV001775870 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001689680 SCV001912630 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689680 SCV003339321 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689680 SCV005291061 benign not provided criteria provided, single submitter not provided

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