Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540746 | SCV000636581 | benign | Kleefstra syndrome 1 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316540 | SCV000850462 | benign | Inborn genetic diseases | 2017-01-31 | 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. |
Gene |
RCV001584267 | SCV001818460 | likely benign | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000540746 | SCV002807982 | likely benign | Kleefstra syndrome 1 | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001584267 | SCV004164050 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BP7, BS1 |