ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)

gnomAD frequency: 0.56314  dbSNP: rs1970912
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145427 SCV000192516 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554601 SCV001775865 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554602 SCV001775866 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512569 SCV003339320 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002512569 SCV005291033 benign not provided criteria provided, single submitter not provided

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