ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)

gnomAD frequency: 0.00159  dbSNP: rs190698163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175280 SCV000226746 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175280 SCV000246898 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001711970 SCV000570968 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863197 SCV001003816 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539627 SCV004766862 likely benign CC2D2A-related disorder 2019-08-30 no assertion criteria provided 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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