Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000458830 | SCV000562453 | benign | Spastic paraplegia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001637048 | SCV001852694 | benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848837 | SCV002104697 | likely benign | Hereditary spastic paraplegia | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001637048 | SCV005226395 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003925384 | SCV004743783 | benign | GBA2-related disorder | 2019-03-14 | 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). |