Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638414 | SCV000759927 | likely benign | Kleefstra syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662686 | SCV001875211 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438692 | SCV002747963 | likely benign | Inborn genetic diseases | 2017-05-31 | 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. |