Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527954 | SCV000655471 | likely benign | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358607 | SCV002655845 | likely benign | Inborn genetic diseases | 2017-06-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |