Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV000725441 | SCV007300275 | likely benign | not provided | 2024-10-11 | criteria provided, single submitter | clinical testing | BS1 |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000341120 | SCV002500218 | benign | not specified | 2026-03-19 | criteria provided, single submitter | clinical testing | Variant summary: IGHMBP2 c.1060+8G>T alters a nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Two predict the variant no significant impact on splicing. Three predict the variant creates a 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0011 in 1613742 control chromosomes, predominantly at a frequency of 0.0014 within the Non-Finnish European subpopulation in the gnomAD v4 database, including one homozygote. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for disease-causing variants in IGHMBP2. To our knowledge, no occurrence of c.1060+8G>T in individuals affected with IGHMBP2-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 284364). Based on the evidence outlined above, the variant was classified as benign. |
| Ce |
RCV000725441 | SCV001500978 | uncertain significance | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000725441 | SCV001472841 | likely benign | not provided | 2020-04-04 | criteria provided, single submitter | clinical testing | |
| Molecular Genetics Laboratory, |
RCV001174191 | SCV001337317 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
| Labcorp Genetics |
RCV001080208 | SCV000642293 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2026-01-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000341120 | SCV000519004 | likely benign | not specified | 2018-01-29 | 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. |
| Illumina Laboratory Services, |
RCV000398567 | SCV000373773 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Eurofins Ntd Llc |
RCV000725441 | SCV000336957 | uncertain significance | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
| Dr. |
RCV005895655 | SCV006783387 | not provided | Acute myeloid leukemia | no classification provided | in vitro |