Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604524 | SCV000717792 | benign | not specified | 2018-01-31 | 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. |
Athena Diagnostics Inc | RCV000712272 | SCV000842722 | likely benign | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712272 | SCV001103562 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712272 | SCV004011486 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MCM2: BS1, BS2 |
Prevention |
RCV003980142 | SCV004786785 | benign | MCM2-related condition | 2019-09-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |