Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000658745 | SCV000780534 | likely benign | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001454662 | SCV001658398 | likely benign | Blau syndrome; Inflammatory bowel disease 1 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000658745 | SCV002048216 | likely benign | not provided | 2021-09-18 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002261163 | SCV002542740 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945688 | SCV004772975 | likely benign | NOD2-related disorder | 2022-08-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |