Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001470168 | SCV001674262 | likely benign | Deficiency of alpha-mannosidase | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930977 | SCV004744649 | likely benign | MAN2B1-related condition | 2019-05-09 | 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, |
RCV001470168 | SCV002086922 | likely benign | Deficiency of alpha-mannosidase | 2021-06-23 | no assertion criteria provided | clinical testing |