Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991371 | SCV001142765 | likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV000995488 | SCV001149676 | pathogenic | Infantile-onset ascending hereditary spastic paralysis | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Paris Brain Institute, |
RCV000995488 | SCV001451107 | pathogenic | Infantile-onset ascending hereditary spastic paralysis | criteria provided, single submitter | clinical testing | ||
Section for Clinical Neurogenetics, |
RCV001030773 | SCV001156077 | likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile | 2019-08-01 | no assertion criteria provided | research |