Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152775 | SCV000202163 | benign | not specified | 2014-03-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152775 | SCV000517780 | benign | not specified | 2017-05-22 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000514947 | SCV000610539 | likely benign | not provided | 2017-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083065 | SCV000639594 | benign | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001083065 | SCV002805001 | benign | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514947 | SCV004158456 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ALG2: BP4, BS2 |
Prevention |
RCV003907437 | SCV004718865 | benign | ALG2-related condition | 2019-12-03 | 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). |