Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066573 | SCV001231588 | benign | Kabuki syndrome | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003353146 | SCV004078528 | likely benign | Inborn genetic diseases | 2023-06-23 | 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. |