Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081412 | SCV000113343 | benign | not specified | 2017-02-06 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000426818 | SCV000510779 | likely benign | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000081412 | SCV000518820 | benign | not specified | 2016-02-22 | 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 | RCV001080586 | SCV001013674 | benign | SLC35A1-congenital disorder of glycosylation | 2024-01-22 | criteria provided, single submitter | clinical testing |