Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000175483 | SCV000226967 | benign | not specified | 2014-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000206768 | SCV000261821 | benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001094125 | SCV000375066 | likely benign | Charcot-Marie-Tooth disease, type 4B2 | 2017-06-30 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Center for Pediatric Genomic Medicine, |
RCV000438792 | SCV000511181 | likely benign | not provided | 2016-10-10 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000175483 | SCV000514466 | likely benign | not specified | 2017-08-01 | 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. |
Genetic Services Laboratory, |
RCV000175483 | SCV000596939 | likely benign | not specified | 2019-07-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000438792 | SCV000843561 | benign | not provided | 2019-08-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000438792 | SCV000891952 | likely benign | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173128 | SCV001336204 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001094125 | SCV001474487 | likely benign | Charcot-Marie-Tooth disease, type 4B2 | 2020-07-30 | criteria provided, single submitter | clinical testing |