Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699858 | SCV000828588 | likely benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311990 | SCV000847068 | likely benign | Inborn genetic diseases | 2017-09-22 | 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 |
RCV001551072 | SCV001771498 | likely benign | not provided | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001551072 | SCV004164251 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PURA: BP3 |