Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000233310 | SCV000288458 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000287743 | SCV000329235 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15235021, 22850631) |
Counsyl | RCV000233310 | SCV000489019 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564966 | SCV000661627 | likely benign | Hereditary cancer-predisposing syndrome | 2024-09-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000287743 | SCV001134075 | uncertain significance | not provided | 2023-06-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194011 | SCV001363235 | uncertain significance | not specified | 2023-03-17 | criteria provided, single submitter | clinical testing | Variant summary: CDH1 c.2282_2284delGAG (p.Gly761del) results in an in-frame deletion that is predicted to remove a Gly amino acid from the encoded protein. The variant was absent in 251468 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2282_2284delGAG in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Myriad Genetics, |
RCV000233310 | SCV004019552 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-03-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic. |
Baylor Genetics | RCV004567739 | SCV005060078 | uncertain significance | Familial cancer of breast | 2024-02-19 | criteria provided, single submitter | clinical testing |