Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000381277 | SCV000341074 | uncertain significance | not provided | 2016-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084725 | SCV000655550 | likely benign | Congenital myasthenic syndrome 15 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000381277 | SCV001794733 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820828 | SCV002066000 | uncertain significance | not specified | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000381277 | SCV002544295 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | ALG14: BP4, BS2 |
Prevention |
RCV003949894 | SCV004770412 | likely benign | ALG14-related disorder | 2021-02-11 | 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). |