Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001225932 | SCV001398226 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330930 | SCV001522789 | uncertain significance | Developmental and epileptic encephalopathy, 28 | 2019-08-16 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |