ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val)

gnomAD frequency: 0.13546  dbSNP: rs1970911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145428 SCV000192517 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
GeneDx RCV001618294 SCV001845265 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618294 SCV003208142 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618294 SCV005291032 benign not provided criteria provided, single submitter not provided

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