Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001246542 | SCV001419901 | benign | Spastic paraplegia | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001328751 | SCV001519938 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-02-27 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001328751 | SCV002026493 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001328751 | SCV002086187 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-01-19 | no assertion criteria provided | clinical testing |