Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000576232 | SCV000676971 | benign | Intellectual disability, autosomal dominant 20 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315875 | SCV000848782 | likely benign | Inborn genetic diseases | 2016-03-14 | 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. |
Eurofins Ntd Llc |
RCV000728150 | SCV000855686 | likely benign | not specified | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001619798 | SCV001846056 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |