Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000416086 | SCV000233169 | uncertain significance | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082848 | SCV000259555 | likely benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000416086 | SCV000493228 | uncertain significance | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000416086 | SCV001135137 | uncertain significance | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV000192241 | SCV001335736 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV001262290 | SCV001440104 | likely benign | Basel-Vanagaite-Smirin-Yosef syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001262290 | SCV001477651 | likely benign | Basel-Vanagaite-Smirin-Yosef syndrome | 2020-07-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001387 | SCV000021537 | uncertain significance | Charcot-Marie-Tooth disease type 2B2 | 2009-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000001387 | SCV000087015 | pathologic | Charcot-Marie-Tooth disease type 2B2 | 2012-07-05 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Gene |
RCV000192241 | SCV000239889 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only |