Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177339 | SCV000229186 | uncertain significance | not provided | 2015-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001484691 | SCV001689112 | likely benign | Kleefstra syndrome 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177339 | SCV001793872 | likely benign | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354457 | SCV002653633 | benign | Inborn genetic diseases | 2018-11-16 | 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. |