ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=)

gnomAD frequency: 0.00471  dbSNP: rs35337537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315342 SCV000849135 likely benign Inborn genetic diseases 2016-05-18 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 RCV000961628 SCV001108679 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000961628 SCV001501692 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953273 SCV004769634 benign CC2D1A-related disorder 2020-01-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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