Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000408286 | SCV000441431 | uncertain significance | Seckel syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328869 | SCV002627426 | likely benign | Inborn genetic diseases | 2022-08-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV003105877 | SCV003794623 | likely benign | not provided | 2022-07-30 | criteria provided, single submitter | clinical testing |