Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000456012 | SCV000539987 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Invitae | RCV000547431 | SCV000656944 | benign | Pancreatic adenocarcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000456012 | SCV002627251 | benign | not specified | 2020-07-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
KCCC/NGS Laboratory, |
RCV003315965 | SCV004016516 | benign | Pancreatic cancer, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing |