Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080030 | SCV000111924 | benign | not specified | 2013-05-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000080030 | SCV000309166 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002513328 | SCV001000694 | benign | RASopathy | 2015-10-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000860593 | SCV001157102 | benign | not provided | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000860593 | SCV001939672 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813303 | SCV002060557 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433489 | SCV002750755 | benign | Cardiovascular phenotype | 2019-08-22 | 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. |
Laboratory for Molecular Medicine, |
RCV000080030 | SCV000204151 | benign | not specified | 2009-06-05 | no assertion criteria provided | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000080030 | SCV000207638 | benign | not specified | 2015-01-15 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000080030 | SCV001920622 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000080030 | SCV001957736 | benign | not specified | no assertion criteria provided | clinical testing |