Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193002 | SCV000249100 | benign | not specified | 2016-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000531600 | SCV000646434 | benign | Intellectual disability, autosomal dominant 5 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315510 | SCV000847842 | likely benign | Inborn genetic diseases | 2016-10-10 | 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. |
Gene |
RCV001707552 | SCV001934980 | benign | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001707552 | SCV004161503 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SYNGAP1: BP4, BP7, BS1 |