Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002060839 | SCV002410435 | benign | Mucopolysaccharidosis, MPS-III-A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938024 | SCV004749706 | benign | SGSH-related condition | 2022-10-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mayo Clinic Laboratories, |
RCV000676156 | SCV000801907 | likely benign | not provided | 2017-09-21 | no assertion criteria provided | clinical testing |