Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330940 | SCV001522799 | likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2020-06-09 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV001330940 | SCV004102633 | pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2023-11-13 | no assertion criteria provided | literature only |