Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000033373 | SCV000057278 | likely benign | not specified | 2012-08-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000033373 | SCV000310874 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000475436 | SCV000555933 | likely benign | RASopathy | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000033373 | SCV001361042 | likely benign | not specified | 2019-12-24 | criteria provided, single submitter | clinical testing | Variant summary: CBL c.2542G>A (p.Ala848Thr) results in a non-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 0.00015 in 251470 control chromosomes. The observed variant frequency is approximately 60 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. c.2542G>A has been reported in the literature in a study examining the prevalence of germline mutations in pediatric cancer where it was classified with a panel decision of probably benign (Zhang_2015). This report does not provide unequivocal conclusions about association of the variant with Noonan Syndrome and Related Conditions. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Genetic Services Laboratory, |
RCV000033373 | SCV002070074 | likely benign | not specified | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003421940 | SCV004129488 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CBL: BP4, BS1 |
ARUP Laboratories, |
RCV003421940 | SCV004563233 | likely benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV003421940 | SCV005211182 | likely benign | not provided | criteria provided, single submitter | not provided |