Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500117 | SCV000595582 | likely benign | not specified | 2016-09-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000584946 | SCV000692823 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | LINS1: BP4, BP7 |
Ambry Genetics | RCV002461259 | SCV000848822 | likely benign | Inborn genetic diseases | 2017-01-20 | 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 | RCV000584946 | SCV001040846 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |