Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330790 | SCV001522594 | uncertain significance | Ceroid lipofuscinosis, neuronal, 6A | 2020-02-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genomic Medicine Center of Excellence, |
RCV001330790 | SCV004810248 | likely pathogenic | Ceroid lipofuscinosis, neuronal, 6A | 2024-04-04 | criteria provided, single submitter | clinical testing |