Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725409 | SCV000336765 | uncertain significance | not provided | 2015-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000341012 | SCV000724159 | likely benign | not specified | 2017-11-09 | 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 | RCV001079275 | SCV001015112 | likely benign | Multiple acyl-CoA dehydrogenase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272689 | SCV001454938 | likely benign | Glutaric acidemia type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |