Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081067 | SCV000112974 | benign | not specified | 2015-01-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081067 | SCV000192910 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311615 | SCV000846454 | benign | Inborn genetic diseases | 2016-05-02 | 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 | RCV000871688 | SCV001013380 | benign | Rubinstein-Taybi syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650917 | SCV001871662 | benign | not provided | 2018-08-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477235 | SCV002799068 | benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2021-07-26 | criteria provided, single submitter | clinical testing |