Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001084992 | SCV000259388 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581617 | SCV000689534 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679574 | SCV000806668 | likely benign | not provided | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679574 | SCV001945444 | benign | not provided | 2015-04-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000581617 | SCV002529180 | benign | Hereditary cancer-predisposing syndrome | 2020-10-30 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002267936 | SCV002551749 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002267936 | SCV002570764 | uncertain significance | not specified | 2022-07-14 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV001084992 | SCV003927040 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | Not applicable criteria (PMID: 30311375) |
Myriad Genetics, |
RCV001084992 | SCV005405292 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-09-12 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679574 | SCV005624922 | uncertain significance | not provided | 2024-03-23 | criteria provided, single submitter | clinical testing | The CDH1 c.388-8C>T variant has been reported in the published literature in an individual with a family history of breast cancer (PMID: 36436516 (2023)). The frequency of this variant in the general population, 0.000062 (7/113642 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect CDH1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant. |