Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945705 | SCV001091750 | benign | ALG6-congenital disorder of glycosylation 1C | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818927 | SCV002071228 | likely benign | not specified | 2019-10-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000945705 | SCV002796540 | likely benign | ALG6-congenital disorder of glycosylation 1C | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003411907 | SCV004128231 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ALG6: BP4, BP7 |
Prevention |
RCV003933236 | SCV004748043 | likely benign | ALG6-related disorder | 2019-06-28 | 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). |
Natera, |
RCV000945705 | SCV001456287 | benign | ALG6-congenital disorder of glycosylation 1C | 2020-09-16 | no assertion criteria provided | clinical testing |