Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534077 | SCV000647897 | benign | Syndromic X-linked intellectual disability Raymond type | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720979 | SCV000851863 | likely benign | History of neurodevelopmental disorder | 2014-09-28 | 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. |
Genetic Services Laboratory, |
RCV001821562 | SCV002066084 | benign | not specified | 2017-12-29 | criteria provided, single submitter | clinical testing |