ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)

gnomAD frequency: 0.00691  dbSNP: rs61740117
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313863 SCV000848026 benign Inborn genetic diseases 2022-03-17 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000955031 SCV001101709 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505040 SCV002803784 likely benign Intellectual disability, autosomal recessive 3 2021-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955031 SCV003918084 benign not provided 2024-03-01 criteria provided, single submitter clinical testing CC2D1A: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915141 SCV004729300 benign CC2D1A-related disorder 2019-06-21 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).
Genetic Services Laboratory, University of Chicago RCV000116595 SCV000150558 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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