ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)

gnomAD frequency: 0.00180  dbSNP: rs192358667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499916 SCV000593867 uncertain significance not specified 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314862 SCV000848515 likely benign Inborn genetic diseases 2021-11-17 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.
Invitae RCV000974304 SCV001122122 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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