Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268225 | SCV001446998 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017443 | SCV000037715 | pathogenic | Hyperekplexia 1 | 1997-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000017443 | SCV000054512 | pathologic | Hyperekplexia 1 | 2012-10-04 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |