Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000421813 | SCV000511202 | likely benign | not provided | 2016-10-26 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001080379 | SCV000656525 | benign | Developmental and epileptic encephalopathy, 30 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000421813 | SCV000843880 | benign | not provided | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318375 | SCV000849531 | benign | Inborn genetic diseases | 2016-08-16 | 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. |