Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336179 | SCV001529503 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2018-08-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002547350 | SCV003490034 | benign | Spastic paraplegia | 2023-12-11 | criteria provided, single submitter | clinical testing |