Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000443025 | SCV000511582 | likely benign | not provided | 2016-09-14 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Centre for Mendelian Genomics, |
RCV001197177 | SCV001367813 | benign | See cases | 2019-04-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. |
Ce |
RCV000443025 | SCV002822384 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | EVI2A: BP4, BS2 |
Prevention |
RCV003922697 | SCV004746223 | likely benign | EVI2A-related condition | 2022-02-11 | 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). |