Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175314 | SCV000226783 | benign | not specified | 2014-09-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313041 | SCV000847398 | benign | Inborn genetic diseases | 2016-05-06 | 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 | RCV000864230 | SCV001005003 | benign | Rubinstein-Taybi syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500478 | SCV002795312 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 | 2022-04-04 | criteria provided, single submitter | clinical testing |