Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224585 | SCV000281390 | likely benign | not provided | 2016-02-10 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000392183 | SCV000339351 | benign | not specified | 2016-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000392183 | SCV000521841 | benign | not specified | 2015-12-23 | 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 | RCV001079173 | SCV000639597 | benign | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2024-01-30 | criteria provided, single submitter | clinical testing |