Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000123240 | SCV000166546 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162614 | SCV000213045 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-20 | 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. |
Illumina Laboratory Services, |
RCV000123240 | SCV000398567 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000433853 | SCV000512524 | benign | not specified | 2015-04-27 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281702 | SCV000600964 | likely benign | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162614 | SCV000684376 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000433853 | SCV001338306 | likely benign | not specified | 2020-02-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000123240 | SCV005404162 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-19 | 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. |
Prevention |
RCV003935175 | SCV004764382 | likely benign | CDH1-related disorder | 2019-10-07 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |