Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081045 | SCV000112952 | benign | not specified | 2013-03-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081045 | SCV000192855 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000081045 | SCV000310299 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002311607 | SCV000846483 | benign | Inborn genetic diseases | 2016-04-18 | 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. |
Invitae | RCV000870865 | SCV001012422 | benign | Rubinstein-Taybi syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675608 | SCV001892592 | benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000081045 | SCV000084751 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |