Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087969 | SCV000642294 | likely benign | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000727033 | SCV000705058 | uncertain significance | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596269 | SCV000728569 | likely benign | not specified | 2017-12-29 | 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. |
Ce |
RCV000727033 | SCV001148360 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000596269 | SCV001159710 | uncertain significance | not specified | 2018-07-12 | criteria provided, single submitter | clinical testing | The IGHMBP2 c.1064C>T; p.Ala355Val variant (rs142062146) is reported in the literature in the homozygous state in an individual who was affected with schizophrenia or schizoaffective disorder; however, the contribution of this variant to the phenotype is not known (Need 2012). This variant is reported in ClinVar (Variation ID: 466572) and is found in the African population with an overall allele frequency of 0.73% (175/24,020 alleles) in the Genome Aggregation Database. The alanine at codon 355 is highly conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, the clinical significance of this variant is uncertain at this time. |
Illumina Clinical Services Laboratory, |
RCV001109641 | SCV001267002 | likely benign | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Molecular Genetics Laboratory, |
RCV001174193 | SCV001337319 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |