Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526785 | SCV000627139 | likely benign | Metachromatic leukodystrophy | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962468 | SCV004778561 | likely benign | ARSA-related condition | 2023-03-22 | 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). |