Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000950974 | SCV001097320 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000950974 | SCV001984334 | benign | Mucopolysaccharidosis, MPS-II | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943027 | SCV004763593 | likely benign | IDS-related disorder | 2022-12-08 | 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, |
RCV001832196 | SCV002084471 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-02-05 | no assertion criteria provided | clinical testing |