Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177383 | SCV000229232 | uncertain significance | not provided | 2014-10-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000373614 | SCV000368042 | uncertain significance | Retinal degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001479559 | SCV001683862 | likely benign | Isolated microphthalmia 5 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537430 | SCV004744589 | likely benign | MFRP-related disorder | 2019-05-09 | 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). |