Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555424 | SCV000654072 | likely benign | Congenital disorder of deglycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562840 | SCV001785671 | uncertain significance | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Prevention |
RCV003962585 | SCV004785352 | likely benign | NGLY1-related condition | 2019-04-15 | 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). |