Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000927644 | SCV001073232 | likely benign | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003903069 | SCV004723767 | likely benign | HGSNAT-related condition | 2019-08-28 | 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). |