Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000985080 | SCV001525140 | pathogenic | Charcot-Marie-Tooth disease type 4D | 2019-08-08 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001509350 | SCV001716001 | likely pathogenic | not provided | 2019-04-14 | criteria provided, single submitter | clinical testing | PVS1_strong, PM2 |
Biochemical Molecular Genetic Laboratory, |
RCV000985080 | SCV001133040 | likely pathogenic | Charcot-Marie-Tooth disease type 4D | 2019-09-26 | no assertion criteria provided | clinical testing |