Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174169 | SCV000225424 | uncertain significance | not provided | 2016-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078655 | SCV001100418 | likely benign | Isolated microphthalmia 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539606 | SCV004782820 | likely benign | MFRP-related disorder | 2019-11-06 | 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). |
Clinical Genetics, |
RCV000174169 | SCV001979174 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000174169 | SCV001980237 | likely benign | not provided | no assertion criteria provided | clinical testing |