Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518134 | SCV000614104 | pathogenic | not provided | 2015-05-28 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregates with disease in multiple families |
OMIM | RCV000015242 | SCV000035501 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 1997-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000015242 | SCV000055675 | pathologic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2012-10-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Inherited Neuropathy Consortium | RCV000789479 | SCV000928835 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |