Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091151 | SCV001247023 | pathogenic | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000022929 | SCV001440993 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics Karolinska University Hospital, |
RCV001091151 | SCV001450155 | likely pathogenic | not provided | 2015-10-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000022929 | SCV000044220 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2O | 2012-11-01 | no assertion criteria provided | literature only | |
OMIM | RCV000055662 | SCV000083887 | pathogenic | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 2012-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000192255 | SCV000239903 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000192255 | SCV000929118 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |