ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)

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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 RCV002954046 SCV003279770 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV002954046 SCV004030967 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004966224 SCV005553431 likely benign Inborn genetic diseases 2024-11-11 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.

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