Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206036 | SCV001377323 | likely benign | Kleefstra syndrome 1 | 2023-07-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567773 | SCV001791520 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561209 | SCV003654316 | likely benign | Inborn genetic diseases | 2022-10-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |