Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000897598 | SCV001041752 | likely benign | Kleefstra syndrome 1 | 2023-05-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585862 | SCV001818561 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444991 | SCV002753977 | likely benign | Inborn genetic diseases | 2017-06-14 | 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. |
Ce |
RCV001585862 | SCV004164079 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BP7 |