Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000873398 | SCV002037606 | benign | Ethylmalonic encephalopathy | 2020-08-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.378G>A variant in the ETHE1 gene is >0.2% by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Mito Variant Curation Expert Panel (BA1) |
Gene |
RCV000433688 | SCV000516811 | benign | not specified | 2016-03-04 | 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. |
Labcorp Genetics |
RCV000873398 | SCV001015383 | benign | Ethylmalonic encephalopathy | 2024-01-31 | criteria provided, single submitter | clinical testing |