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: 5
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV000961628 SCV005209560 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003953273 SCV004769634 benign CC2D1A-related disorder 2020-01-13 no assertion criteria provided 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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