ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293611 SCV002586439 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002293611 SCV003279819 benign not provided 2024-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003097831 SCV003675947 likely benign Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004548263 SCV004759627 likely benign CCDC88C-related disorder 2022-05-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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