Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000204670 | SCV000261124 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000418885 | SCV000512511 | likely benign | not specified | 2017-06-28 | 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. |
Ambry Genetics | RCV000571842 | SCV000661651 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-08 | 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, |
RCV000571842 | SCV000684482 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284470 | SCV001470284 | likely benign | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571842 | SCV002529210 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-10 | criteria provided, single submitter | curation | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000204670 | SCV003926686 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BP7 (PMID: 30311375) |
KCCC/NGS Laboratory, |
RCV003316139 | SCV004017009 | likely benign | Malignant tumor of prostate | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000204670 | SCV005405309 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-16 | 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. |