Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000180646 | SCV000233125 | likely benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000180646 | SCV000251729 | likely benign | not specified | 2018-02-19 | 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. |
Invitae | RCV000205710 | SCV000260582 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000180646 | SCV000312239 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000321170 | SCV000347980 | likely benign | Hereditary motor and sensory neuropathy with optic atrophy | 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. |
Illumina Clinical Services Laboratory, |
RCV000205710 | SCV000347981 | likely benign | Charcot-Marie-Tooth disease, type 2 | 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. |
Ce |
RCV000658493 | SCV000780261 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986246 | SCV001135181 | likely benign | Charcot-Marie-Tooth disease, type 2A2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172690 | SCV001335756 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001284861 | SCV001470954 | likely benign | none provided | 2019-12-14 | criteria provided, single submitter | clinical testing |