Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444846 | SCV000518681 | likely benign | not specified | 2017-08-14 | 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. |
Eurofins Ntd Llc |
RCV000444846 | SCV000700637 | likely benign | not specified | 2017-04-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000958947 | SCV001105832 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing |