Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000241659 | SCV000304391 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001696189 | SCV001916338 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808668 | SCV002057402 | benign | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347951 | SCV002622182 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Faculté Pluridciplinaire Nador, |
RCV001250929 | SCV001250968 | uncertain significance | Squamous cell lung carcinoma | 2020-05-05 | no assertion criteria provided | clinical testing |