Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315490 | SCV000849442 | likely benign | Inborn genetic diseases | 2017-05-03 | 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. |
Invitae | RCV001416577 | SCV001618760 | likely benign | Kleefstra syndrome 1 | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592920 | SCV001816291 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001416577 | SCV002797271 | likely benign | Kleefstra syndrome 1 | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001592920 | SCV004164069 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BP7 |