Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000896669 | SCV001040775 | benign | Mucopolysaccharidosis, MPS-III-A | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922881 | SCV004740047 | likely benign | SGSH-related disorder | 2020-10-10 | 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, |
RCV000896669 | SCV001455449 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-05-04 | no assertion criteria provided | clinical testing |