Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194780 | SCV000248285 | uncertain significance | not specified | 2015-04-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705083 | SCV000517247 | likely benign | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558765 | SCV000651830 | likely benign | Pitt-Hopkins-like syndrome 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317700 | SCV000850153 | likely benign | Inborn genetic diseases | 2016-08-25 | 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. |