ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)

gnomAD frequency: 0.90936  dbSNP: rs941920
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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 RCV000145447 SCV000192531 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145447 SCV000857152 benign not specified 2017-09-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554377 SCV001775608 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554378 SCV001775609 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515952 SCV003339316 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002515952 SCV005291006 benign not provided criteria provided, single submitter not provided

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