Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082892 | SCV000754208 | likely benign | Rubinstein-Taybi syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000729898 | SCV000857596 | uncertain significance | not provided | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358773 | SCV002623171 | benign | Inborn genetic diseases | 2019-10-07 | 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. |
Ce |
RCV000729898 | SCV004144976 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | CREBBP: BP4, BP7 |