Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000908887 | SCV001053671 | benign | Mucopolysaccharidosis, MPS-II | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432899 | SCV004166984 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | IDS: BP4, BP7 |
Prevention |
RCV003902846 | SCV004722848 | likely benign | IDS-related disorder | 2019-06-11 | 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, |
RCV001836008 | SCV002084477 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-02-27 | no assertion criteria provided | clinical testing |