Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001415017 | SCV001617166 | likely benign | Mucopolysaccharidosis, MPS-III-D | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938712 | SCV004752952 | likely benign | GNS-related condition | 2019-04-05 | 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). |