Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002413 | SCV001160345 | likely benign | Mitochondrial complex III deficiency nuclear type 3 | 2019-04-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546719 | SCV001766289 | likely benign | not provided | 2018-09-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918643 | SCV004736659 | benign | UQCRB-related disorder | 2019-09-04 | 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). |