Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000946256 | SCV001092371 | benign | KBG syndrome | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692324 | SCV001910072 | benign | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000946256 | SCV002525195 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346151 | SCV002654146 | likely benign | Inborn genetic diseases | 2018-03-10 | 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. |