Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123013 | SCV000166308 | benign | Gorlin syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000599911 | SCV000731075 | likely benign | not specified | 2017-12-20 | 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. |
Sema4, |
RCV002257451 | SCV002526857 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-08 | criteria provided, single submitter | curation | |
Prevention |
RCV004551204 | SCV004722033 | benign | PTCH1-related disorder | 2019-09-10 | 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). |