Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000251123 | SCV000304390 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001709524 | SCV001156743 | benign | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709524 | SCV001936577 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808667 | SCV002057401 | benign | Peutz-Jeghers syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347950 | SCV002622654 | 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. |
KCCC/NGS Laboratory, |
RCV001808667 | SCV004015561 | benign | Peutz-Jeghers syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000251123 | SCV000692043 | benign | not specified | no assertion criteria provided | clinical testing | ||
Faculté Pluridciplinaire Nador, |
RCV001250928 | SCV001250967 | uncertain significance | Squamous cell lung carcinoma | 2020-05-05 | no assertion criteria provided | clinical testing | |
Clinical Genetics Laboratory, |
RCV000251123 | SCV001906327 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000251123 | SCV001959849 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000251123 | SCV001968643 | benign | not specified | no assertion criteria provided | clinical testing |