Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726401 | SCV000344401 | uncertain significance | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000284270 | SCV000531468 | likely benign | not specified | 2018-03-14 | 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 | RCV001491331 | SCV001695918 | likely benign | Shprintzen-Goldberg syndrome | 2023-10-09 | criteria provided, single submitter | clinical testing |