Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967703 | SCV001115112 | benign | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003916241 | SCV004739384 | benign | NAGLU-related condition | 2019-05-20 | 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). |
Natera, |
RCV001274191 | SCV001458034 | benign | Mucopolysaccharidosis, MPS-III-B | 2019-11-11 | no assertion criteria provided | clinical testing |