Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001079117 | SCV000288017 | benign | GM3 synthase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000713530 | SCV000844152 | benign | not provided | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003919956 | SCV004737263 | benign | ST3GAL5-related disorder | 2019-08-12 | no assertion criteria provided | 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). |