Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000545047 | SCV000654104 | benign | Congenital disorder of deglycosylation | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000604202 | SCV000716673 | likely benign | not specified | 2017-03-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV003915618 | SCV004734367 | likely benign | NGLY1-related condition | 2019-05-23 | 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). |