Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212360 | SCV000210881 | benign | not specified | 2014-08-01 | 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 | RCV000160372 | SCV000213321 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-09 | 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. |
Labcorp Genetics |
RCV000198410 | SCV000252787 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000198410 | SCV000398559 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Color Diagnostics, |
RCV000160372 | SCV000684325 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588315 | SCV000698352 | benign | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | Variant summary: The CDH1 c.1020G>A (p.Thr340Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant while splice prediction tools indicate the variant not to have an impact on normal splicing. This variant was found in 22/121410 control chromosomes (1 homozygote), predominantly observed in the East Asian subpopulation at a frequency of 0.00104 (9/8654). This frequency is about 37 times the estimated maximal expected allele frequency of a pathogenic CDH1 variant (0.0000283), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Counsyl | RCV000198410 | SCV000786161 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000588315 | SCV000889234 | benign | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798549 | SCV002043247 | likely benign | Breast and/or ovarian cancer | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212360 | SCV002067078 | likely benign | not specified | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000160372 | SCV002531136 | benign | Hereditary cancer-predisposing syndrome | 2021-10-11 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212360 | SCV002760856 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000198410 | SCV003926723 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BS1; BP2 (PMID: 30311375) |
Myriad Genetics, |
RCV000198410 | SCV004019985 | benign | Hereditary diffuse gastric adenocarcinoma | 2023-03-06 | 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000588315 | SCV001957952 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000588315 | SCV001966084 | likely benign | not provided | no assertion criteria provided | clinical testing |