Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Uni |
RCV000059381 | SCV000090905 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided | ||
Genome |
RCV000059381 | SCV000681403 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | phenotyping only | Variant interpreted as "disease-associated mutation" and reported on 06/30/2007 by Lab or GTR ID 1012. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Clin |
RCV000059381 | SCV001443821 | pathogenic | Severe myoclonic epilepsy in infancy | no assertion criteria provided | literature only |