ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002637709 SCV003518122 likely benign not provided 2024-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550443 SCV004120298 uncertain significance CCDC88C-related disorder 2022-11-01 criteria provided, single submitter clinical testing The CCDC88C c.2365C>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.096% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-91779795-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587442 SCV005075815 likely benign not specified 2024-04-03 criteria provided, single submitter clinical testing

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