Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081063 | SCV000112970 | benign | not specified | 2013-03-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081063 | SCV000192903 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000081063 | SCV000310306 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000530305 | SCV000629374 | benign | Rubinstein-Taybi syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311613 | SCV000846603 | benign | Inborn genetic diseases | 2016-04-27 | 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. |
Gene |
RCV001610373 | SCV001832979 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490708 | SCV002795388 | benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2021-07-27 | criteria provided, single submitter | clinical testing |