Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002548345 | SCV001118135 | benign | Blau syndrome; Regional enteritis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000970549 | SCV001150908 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | NOD2: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV002264116 | SCV002542298 | likely benign | Autoinflammatory syndrome | 2022-03-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928488 | SCV004737905 | likely benign | NOD2-related disorder | 2020-09-17 | 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). |