Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444320 | SCV000512203 | likely benign | not specified | 2017-10-17 | 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 | RCV001082386 | SCV000639961 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762657 | SCV000892991 | likely benign | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing |