Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163580 | SCV000214139 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-29 | 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 |
RCV000197325 | SCV000252789 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000244292 | SCV000310122 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Counsyl | RCV000197325 | SCV000488639 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2016-05-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000244292 | SCV000518176 | benign | not specified | 2015-08-03 | 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. |
Color Diagnostics, |
RCV000163580 | SCV000684344 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759724 | SCV000889242 | benign | not provided | 2023-01-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000244292 | SCV000917115 | benign | not specified | 2017-10-31 | criteria provided, single submitter | clinical testing | Variant summary: The CDH1 c.1239C>T (p.Tyr413Tyr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 37/277230 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001207 (29/24032). This frequency is about 43 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 African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign or likely benign. Taken together, this variant is classified as benign. |
Sema4, |
RCV000163580 | SCV002531153 | benign | Hereditary cancer-predisposing syndrome | 2021-07-30 | criteria provided, single submitter | curation | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000197325 | SCV003926758 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BS1 (PMID: 30311375) |
KCCC/NGS Laboratory, |
RCV003316002 | SCV004017025 | benign | Malignant tumor of prostate | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000197325 | SCV004019993 | 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. |
Institute for Biomarker Research, |
RCV000163580 | SCV005045341 | benign | Hereditary cancer-predisposing syndrome | 2024-01-23 | criteria provided, single submitter | clinical testing |