Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723468 | SCV000111138 | uncertain significance | not provided | 2013-09-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079268 | SCV000536415 | likely benign | not specified | 2017-01-11 | 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 | RCV001079760 | SCV001012987 | likely benign | Maple syrup urine disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001079760 | SCV002032929 | likely benign | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826715 | SCV002088169 | likely benign | Maple syrup urine disease type 1A | 2020-02-27 | no assertion criteria provided | clinical testing |