Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082319 | SCV000114276 | benign | not specified | 2012-10-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082319 | SCV000315185 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000082319 | SCV000517714 | benign | not specified | 2015-12-21 | 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 | RCV001511012 | SCV001718185 | benign | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2024-01-31 | criteria provided, single submitter | clinical testing |