Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000514589 | SCV000334092 | uncertain significance | not provided | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514589 | SCV000610438 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087320 | SCV001055284 | benign | Intellectual disability, CASK-related, X-linked | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820814 | SCV002066109 | likely benign | not specified | 2018-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446518 | SCV002735498 | benign | Inborn genetic diseases | 2017-07-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |