Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000395325 | SCV000358662 | likely benign | Congenital disorder of glycosylation type 1t | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000281994 | SCV000358663 | likely benign | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000428999 | SCV000517818 | benign | not specified | 2016-05-11 | 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 | RCV000395325 | SCV000769541 | benign | Congenital disorder of glycosylation type 1t | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000675309 | SCV000800974 | benign | not provided | 2017-10-16 | no assertion criteria provided | clinical testing |