ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser)

gnomAD frequency: 0.00270  dbSNP: rs56359259
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419467 SCV000511405 likely benign not provided 2016-12-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000501181 SCV000593882 benign not specified 2016-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314131 SCV000848521 likely benign Inborn genetic diseases 2022-02-01 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 RCV000419467 SCV001104745 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419467 SCV004140257 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CC2D1A: BP4
PreventionGenetics, part of Exact Sciences RCV003950338 SCV004774575 benign CC2D1A-related disorder 2023-12-21 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).

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