Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876966 | SCV001019618 | benign | Congenital myasthenic syndrome 15 | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003411866 | SCV004124088 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | ALG14: BP4, BP7, BS1, BS2 |
Prevention |
RCV003930445 | SCV004755591 | benign | ALG14-related disorder | 2019-06-06 | 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). |