Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316049 | SCV000847475 | likely benign | Inborn genetic diseases | 2016-08-04 | 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 | RCV000946016 | SCV001092100 | likely benign | Cornelia de Lange syndrome 1 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432750 | SCV004160884 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | NIPBL: BP4, BP7 |