Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667110 | SCV000791508 | uncertain significance | Hurler syndrome | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766440 | SCV001999403 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Revvity Omics, |
RCV001766440 | SCV003817590 | uncertain significance | not provided | 2023-01-10 | criteria provided, single submitter | clinical testing |