Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195210 | SCV000246968 | uncertain significance | not specified | 2014-09-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000954091 | SCV001100700 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000954091 | SCV001894862 | benign | not provided | 2019-11-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927773 | SCV004740885 | benign | CEP135-related condition | 2019-05-20 | 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). |