Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000351727 | SCV000414225 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000320960 | SCV000483745 | likely benign | Neuroferritinopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359249 | SCV000483746 | likely benign | Hereditary hyperferritinemia with congenital cataracts | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897755 | SCV004709604 | likely benign | FTL-related disorder | 2021-06-17 | 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). |