Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328222 | SCV001244345 | likely benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-17 | reviewed by expert panel | curation | The c.49-3C>T variant has been observed in at least 10 individuals without DGC, SRC tumours, or LBC & whose families do not suggest HDGC (BS2; SCV000186304.5, SCV000288486.4). There are at least 3 in silico predictors in agreement that this variant does not affect splicing (BP4). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2, BP4. |
Ambry Genetics | RCV000131330 | SCV000186304 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000230940 | SCV000288486 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000230940 | SCV000785739 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636682 | SCV001848077 | benign | not provided | 2015-07-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131330 | SCV002529187 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000230940 | SCV004020022 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-03-06 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Color Diagnostics, |
RCV000131330 | SCV004360424 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-27 | criteria provided, single submitter | clinical testing |