Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312742 | SCV000847096 | likely benign | Inborn genetic diseases | 2016-08-17 | 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 | RCV000963771 | SCV001110945 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000963771 | SCV001900639 | benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003338751 | SCV004049801 | likely benign | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing |