Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Inherited Neuropathy Consortium | RCV000789336 | SCV000928689 | uncertain significance | Autosomal dominant distal hereditary motor neuropathy | no assertion criteria provided | literature only | ||
Genesis Genome Database | RCV000856977 | SCV000999544 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research | |
Biochemical Molecular Genetic Laboratory, |
RCV000985181 | SCV001133196 | likely pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2019-09-26 | no assertion criteria provided | clinical testing |