Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000269021 | SCV000436877 | uncertain significance | Glutamate formiminotransferase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000287869 | SCV000483979 | likely benign | Myosclerosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000328840 | SCV000483980 | likely benign | Collagen 6-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957754 | SCV004773998 | likely benign | FTCD-related condition | 2019-04-08 | 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). |