Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001727908 | SCV002376390 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542029 | SCV004792905 | likely benign | COL11A1-related disorder | 2019-02-19 | 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). |
Genome Diagnostics Laboratory, |
RCV001579753 | SCV001808395 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727908 | SCV001975927 | likely benign | not provided | no assertion criteria provided | clinical testing |