Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082893 | SCV000218575 | likely benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000237055 | SCV000292687 | likely benign | not specified | 2017-08-18 | 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. |
Genomic Diagnostic Laboratory, |
RCV000237055 | SCV000297314 | uncertain significance | not specified | 2015-11-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000713265 | SCV000339049 | uncertain significance | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713265 | SCV000843854 | likely benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987610 | SCV001136995 | benign | Charcot-Marie-Tooth disease, type 4C | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713265 | SCV001154547 | uncertain significance | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000237055 | SCV001158099 | likely benign | not specified | 2018-09-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000987610 | SCV001318730 | uncertain significance | Charcot-Marie-Tooth disease, type 4C | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV001157181 | SCV001318731 | uncertain significance | Mononeuropathy of the median nerve, mild | 2018-02-13 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Molecular Genetics Laboratory, |
RCV000789576 | SCV001335908 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000713265 | SCV001433771 | likely benign | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | The c.3686A>T; p.Asp1229Val variant (rs146920285) has been reported in the heterozygous state, in the absence of any other detected pathogenic SH3TC2 variants, in two HMSN I patients (Lassuthova 2011) and one CMT2 patient; however, the variant did not segregate with disease in the CMT family (Hoyer 2014). This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.4% (identified on 510 out of 126,418 chromosomes), in the Saudi Human Genome Program with a frequency of 2.6% (identified on 102 out of 3,920 chromosomes; Abouelhoda 2016), and is classified as likely benign/uncertain significance in ClinVar (ID: 188089). Based on the available information, the p.Asp1229Val variant is likely to be benign. |
Inherited Neuropathy Consortium | RCV000789576 | SCV000928932 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |