Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880960 | SCV001024093 | likely benign | Multiple sulfatase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967982 | SCV004786105 | likely benign | SUMF1-related condition | 2021-07-05 | 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). |