ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)

gnomAD frequency: 0.00039  dbSNP: rs143049136
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707585 SCV000836686 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492420 SCV002777422 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 2021-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019674 SCV004920210 uncertain significance Inborn genetic diseases 2023-11-13 criteria provided, single submitter clinical testing The c.2119C>T (p.R707C) alteration is located in exon 16 (coding exon 15) of the CARD11 gene. This alteration results from a C to T substitution at nucleotide position 2119, causing the arginine (R) at amino acid position 707 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004808581 SCV005434131 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing CARD11: BP4
ITMI RCV000120443 SCV000084595 not provided not specified 2013-09-19 no assertion provided reference population

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.