ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)

gnomAD frequency: 0.00081  dbSNP: rs200650758
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517793 SCV000612698 likely benign not specified 2019-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765188 SCV000896423 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527464 SCV003722517 likely benign Inborn genetic diseases 2021-12-03 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.
GeneDx RCV003441903 SCV004169492 uncertain significance not provided 2023-05-12 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
PreventionGenetics, part of Exact Sciences RCV004551658 SCV004727941 likely benign CCDC88C-related disorder 2022-04-23 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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