Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203897 | SCV000260071 | benign | Charcot-Marie-Tooth disease, type I | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000988369 | SCV000363332 | likely benign | Charcot-Marie-Tooth disease type 1D | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Mendelics | RCV000988369 | SCV001138057 | benign | Charcot-Marie-Tooth disease type 1D | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV000789052 | SCV001336319 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001549729 | SCV001769936 | likely benign | not provided | 2021-02-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28902413, 11545686, 22765307) |
Ce |
RCV001549729 | SCV004125461 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | EGR2: BP4, BS1 |
Inherited Neuropathy Consortium | RCV000789052 | SCV000928401 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV000988369 | SCV004174363 | uncertain significance | Charcot-Marie-Tooth disease type 1D | 2016-01-06 | no assertion criteria provided | literature only |