Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081393 | SCV000563616 | likely benign | Charcot-Marie-Tooth disease type 2E | 2019-12-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000507003 | SCV000604449 | benign | not specified | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000507003 | SCV000714728 | likely benign | not specified | 2017-06-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000057142 | SCV000892829 | uncertain significance | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001160882 | SCV001322718 | benign | Charcot-Marie-Tooth disease, demyelinating, type 1f | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Molecular Genetics Laboratory, |
RCV001173051 | SCV001336126 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Epithelial Biology; Institute of Medical Biology, |
RCV000057142 | SCV000088255 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000507003 | SCV000928962 | uncertain significance | not specified | no assertion criteria provided | literature only |