ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val)

gnomAD frequency: 0.00001  dbSNP: rs151255440
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064047 SCV001228920 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-05-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332677 SCV001525062 uncertain significance BENTA disease 2020-03-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.