Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996552 | SCV001151315 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450300 | SCV001653902 | likely benign | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928646 | SCV004745541 | likely benign | NAGLU-related condition | 2019-09-12 | 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, |
RCV001832314 | SCV002093274 | likely benign | Mucopolysaccharidosis, MPS-III-B | 2021-07-27 | no assertion criteria provided | clinical testing |