Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001029741 | SCV001192530 | uncertain significance | not provided | 2019-10-04 | criteria provided, single submitter | research | ACMG codes: PM2 |
Breakthrough Genomics, |
RCV001029741 | SCV005191143 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003906148 | SCV004720554 | likely benign | DNHD1-related disorder | 2019-06-18 | no assertion criteria provided | 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). |