Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724562 | SCV000232298 | uncertain significance | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179971 | SCV000519992 | likely benign | not specified | 2016-07-26 | 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 | RCV000724562 | SCV001055244 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276992 | SCV001463722 | uncertain significance | Mitochondrial complex I deficiency | 2020-01-24 | no assertion criteria provided | clinical testing |