ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)

gnomAD frequency: 0.00006  dbSNP: rs755367503
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592858 SCV000702251 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086741 SCV001010319 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000592858 SCV002497255 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530664 SCV004728442 likely benign CC2D2A-related disorder 2022-05-06 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.