Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001502304 | SCV001707133 | likely benign | Alpha-N-acetylgalactosaminidase deficiency type 1 | 2024-03-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782594 | SCV005394917 | likely benign | not specified | 2024-09-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530965 | SCV004746882 | likely benign | NAGA-related disorder | 2019-09-26 | no assertion criteria provided | 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). |