ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)

gnomAD frequency: 0.00650  dbSNP: rs45560241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145448 SCV000192532 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000957235 SCV001104033 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957235 SCV001149295 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CCDC88C: BP4, BS2

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