Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724283 | SCV000224880 | uncertain significance | not provided | 2014-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724283 | SCV000518452 | likely benign | not provided | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080670 | SCV000562386 | benign | Pitt-Hopkins-like syndrome 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000173732 | SCV000596070 | likely benign | not specified | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390418 | SCV002701534 | likely benign | Inborn genetic diseases | 2017-08-02 | 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. |