Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000206177 | SCV000260549 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722124 | SCV000526548 | likely benign | not provided | 2019-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571412 | SCV000666270 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-22 | 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. |
Color Diagnostics, |
RCV000571412 | SCV000684495 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000423775 | SCV000919111 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571412 | SCV002529226 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-13 | criteria provided, single submitter | curation | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000206177 | SCV003926705 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BS2_Supporting; BP7 (PMID: 30311375) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001722124 | SCV004220850 | likely benign | not provided | 2023-07-26 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000206177 | SCV005405320 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-17 | 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. |