Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000132459 | SCV000187553 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV000212623 | SCV000211372 | benign | not specified | 2014-06-17 | 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. |
Color Diagnostics, |
RCV000132459 | SCV000910595 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212623 | SCV000917759 | benign | not specified | 2018-04-13 | criteria provided, single submitter | clinical testing | Variant summary: MSH6 c.-18G>T is located in the untranslated mRNA region upstream of the initiation codon. The variant was observed with an allele frequency of 0.0003 in 270744 control chromosomes (gnomAD). The observed variant frequency is approximately 2-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in MSH6 causing Lynch Syndrome phenotype (0.00014), strongly suggesting that the variant is benign. The variant, c.-18G>T, has been reported in the literature in an individual affected with Lynch Syndrome (Lamberti_2006). These report(s) do not provide unequivocal conclusions about association of the variant with Lynch Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as "likely benign." Based on the evidence outlined above, the variant was classified as benign. |
Institute for Clinical Genetics, |
RCV001698958 | SCV002010122 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000212623 | SCV002760652 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149715 | SCV003837634 | likely benign | Breast and/or ovarian cancer | 2023-05-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001698958 | SCV001925567 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001698958 | SCV001951100 | likely benign | not provided | no assertion criteria provided | clinical testing |