Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000319912 | SCV000436881 | benign | Glutamate formiminotransferase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000339511 | SCV000483983 | benign | Collagen 6-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000404701 | SCV000483984 | benign | Myosclerosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000319912 | SCV001718264 | benign | Glutamate formiminotransferase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972435 | SCV004795955 | benign | FTCD-related condition | 2019-09-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |