Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180646 | SCV000233125 | likely benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658493 | SCV000251729 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27582484, 26143526, 16043786, 24450158, 22492563, 19889647) |
Labcorp Genetics |
RCV000205710 | SCV000260582 | benign | Charcot-Marie-Tooth disease type 2 | 2025-02-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000180646 | SCV000312239 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
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 Laboratory Services, |
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 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | MFN2: BS2 |
Mendelics | RCV000986246 | SCV001135181 | likely benign | Charcot-Marie-Tooth disease type 2A2 | 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, |
RCV000658493 | SCV001470954 | likely benign | not provided | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444723 | SCV002682046 | likely benign | Inborn genetic diseases | 2019-09-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002492791 | SCV002801687 | likely benign | Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A | 2021-11-21 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000180646 | SCV001918605 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000658493 | SCV001965051 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000180646 | SCV001978161 | benign | not specified | no assertion criteria provided | clinical testing | ||
Solve- |
RCV000986246 | SCV005091378 | likely pathogenic | Charcot-Marie-Tooth disease type 2A2 | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |