Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249071 | SCV000302283 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Mendelics | RCV000989646 | SCV001140177 | benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989646 | SCV001727890 | benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000989646 | SCV001737969 | benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723534 | SCV001950471 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30709874, 17383305, 21884584, 18799874, 19689263, 11023926, 15078863, 23821607, 22396743, 23409188, 25095657, 23040216, 9445163, 24339896, 24392120, 29132304, 29454792) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000249071 | SCV002051157 | benign | not specified | 2021-12-16 | criteria provided, single submitter | clinical testing | Variant summary: CYBA c.214T>C (p.Tyr72His) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.7 in 250626 control chromosomes, suggesting that it is the major allele and therefore benign. The observed variant frequency is approximately 1139 fold of the estimated maximal expected allele frequency for a pathogenic variant in CYBA causing Chronic Granulomatous Disease phenotype (0.00061), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.214T>C in individuals affected with Chronic Granulomatous Disease and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters have assessed the clinical significance of this variant after 2014: four have classified the variant as benign and one as likely pathogenic. Based on the evidence outlined above, the variant was classified as benign. |
Unidad de Genómica Garrahan, |
RCV000249071 | SCV004232923 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 93% of patients studied by a panel of primary immunodeficiencies. Number of patients: 88. Only high quality variants are reported. |
OMIM | RCV000002351 | SCV000022509 | benign | CYBA POLYMORPHISM | 2009-07-01 | no assertion criteria provided | literature only | |
Institute of Clinical Molecular Biology, |
RCV000736011 | SCV000864164 | likely pathogenic | Very early onset inflammatory bowel disease | 2018-11-06 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000249071 | SCV001744814 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000249071 | SCV001932837 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome |
RCV001723534 | SCV002074602 | 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. | |
Natera, |
RCV001826406 | SCV002089439 | benign | Chronic granulomatous disease | 2019-11-18 | no assertion criteria provided | clinical testing |