ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=)

gnomAD frequency: 0.00526  dbSNP: rs147905122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194997 SCV000246885 benign not specified 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311293 SCV000847008 likely benign Inborn genetic diseases 2016-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000974305 SCV001122123 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967494 SCV004777240 benign CC2D1A-related condition 2019-09-06 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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