Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419020 | SCV000518776 | likely benign | not specified | 2016-02-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000445589 | SCV000646844 | benign | Familial acute necrotizing encephalopathy | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000445589 | SCV002809643 | likely benign | Familial acute necrotizing encephalopathy | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001529783 | SCV004148991 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | RANBP2: BP4, BS2 |
Kamineni Academy of Medical Sciences & Research Centre, |
RCV000445589 | SCV000537213 | likely pathogenic | Familial acute necrotizing encephalopathy | 2016-10-28 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV001529783 | SCV001743853 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001529783 | SCV001800115 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529783 | SCV001930143 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529783 | SCV001963849 | likely benign | not provided | no assertion criteria provided | clinical testing |