ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)

gnomAD frequency: 0.00001  dbSNP: rs529368098
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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 RCV000500485 SCV000593876 likely benign not specified 2020-05-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332174 SCV001524408 uncertain significance Intellectual disability, autosomal recessive 3 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV003718245 SCV004515671 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960154 SCV004771583 likely benign CC2D1A-related disorder 2022-03-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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