ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3276A>G (p.Arg1092=)

gnomAD frequency: 0.54386  dbSNP: rs1124581
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455366 SCV000538572 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001518335 SCV001727008 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554573 SCV001775827 benign BENTA disease 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554574 SCV001775828 benign Severe combined immunodeficiency due to CARD11 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554575 SCV001775829 benign Immunodeficiency 11b with atopic dermatitis 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455366 SCV004101914 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 73% of patients studied by a panel of primary immunodeficiencies. Number of patients: 70. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001824768 SCV002074579 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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