Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439267 | SCV000517596 | benign | not specified | 2015-12-02 | 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 | RCV001515780 | SCV001723930 | benign | Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702443 | SCV001933255 | benign | Hereditary spastic paraplegia 74 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001702642 | SCV001933256 | benign | Multiple mitochondrial dysfunctions syndrome 3 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676869 | SCV000802682 | benign | not provided | 2016-02-16 | no assertion criteria provided | clinical testing |