Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551575 | SCV000655467 | benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316580 | SCV000850188 | likely benign | Inborn genetic diseases | 2016-09-12 | 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. |
Gene |
RCV001637084 | SCV001849012 | benign | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing |