Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162447 | SCV000212800 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-01 | 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. |
Gene |
RCV000757065 | SCV000723574 | likely benign | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24204729) |
Labcorp Genetics |
RCV001088659 | SCV000760883 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-11-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757065 | SCV000885154 | likely benign | not provided | 2017-12-18 | criteria provided, single submitter | clinical testing | The CDH1 c.2073C>T; p.Ala691Ala variant is listed in the medical literature in an individual with gastric cancer (Garziera 2013). However, the variant is also listed as likely benign in the ClinVar database (Variation ID: 183737). The variant is listed in the dbSNP variant database (rs536104508) and in the Genome Aggregation Database in 3/277160 alleles. This is a silent variant, the nucleotide at this position is not conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict no significant change in splicing. Considering available information, this variant is classified as likely benign. References: Garziera M et al. Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer. PLoS One. 2013 Oct 29;8(10):e77035. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000602744 | SCV000919117 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162447 | SCV001354015 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV001088659 | SCV005402835 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-20 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
True Health Diagnostics | RCV000162447 | SCV000787980 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-20 | no assertion criteria provided | clinical testing |