Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000033916 | SCV000057832 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-03-26 | no assertion criteria provided | literature only | |
Genome |
RCV000033916 | SCV000607314 | not provided | Charcot-Marie-Tooth disease, demyelinating, type 1b | no assertion provided | phenotyping only | 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. | |
Inherited Neuropathy Consortium | RCV000789496 | SCV000928852 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |