Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533210 | SCV000759556 | likely benign | Blau syndrome; Regional enteritis | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001784215 | SCV001984541 | likely benign | Inflammatory bowel disease 1 | 2020-07-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002261147 | SCV002542729 | likely benign | Autoinflammatory syndrome | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884681 | SCV004698361 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | NOD2: BP4, BS1 |
Prevention |
RCV003953131 | SCV004777977 | likely benign | NOD2-related condition | 2022-12-08 | 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). |