ClinVar Miner

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

gnomAD frequency: 0.55473  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
Breakthrough Genomics, Breakthrough Genomics RCV002512569 SCV005291033 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV002512569 SCV003339320 benign not provided 2025-02-03 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
Genome-Nilou Lab RCV001554601 SCV001775865 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145427 SCV000192516 benign not specified 2013-04-08 criteria provided, single submitter clinical testing

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