Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193460 | SCV001362308 | benign | not specified | 2019-12-24 | criteria provided, single submitter | clinical testing | Variant summary: CBL c.-5A>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00011 in 166128 control chromosomes. The observed variant frequency is approximately 46 fold of the estimated maximal expected allele frequency for a pathogenic variant in CBL causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.-5A>G in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV001619898 | SCV001845729 | likely benign | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001193460 | SCV002070073 | uncertain significance | not specified | 2020-01-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001619898 | SCV004564307 | likely benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938551 | SCV004748951 | likely benign | CBL-related condition | 2019-06-11 | criteria provided, single submitter | 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). |