Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000899450 | SCV001043720 | likely benign | Mucolipidosis type IV | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912840 | SCV004735936 | likely benign | MCOLN1-related disorder | 2019-05-28 | 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, |
RCV000899450 | SCV002091364 | likely benign | Mucolipidosis type IV | 2020-12-03 | no assertion criteria provided | clinical testing |