Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000427822 | SCV000510925 | uncertain significance | not provided | 2016-10-13 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000427822 | SCV000570532 | likely benign | not provided | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000427822 | SCV001034718 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524712 | SCV003724202 | likely benign | Inborn genetic diseases | 2022-11-10 | 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. |