Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000724946 | SCV000329193 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Eurofins Ntd Llc |
RCV000724946 | SCV000332634 | uncertain significance | not provided | 2015-07-13 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000372057 | SCV000407147 | uncertain significance | Desbuquois dysplasia 1 | 2018-01-12 | 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. |
| ARUP Laboratories, |
RCV000724946 | SCV002048564 | uncertain significance | not provided | 2020-12-11 | criteria provided, single submitter | clinical testing | The CANT1 c.56G>A; p.Arg19Gln variant (rs144060377), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 279729). This variant is found in the non-Finnish European population with an overall allele frequency of 0.22% (233/106792 alleles, including 2 homozygotes) in the Genome Aggregation Database. The arginine at codon 19 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.559). Although the population frequency of the p.Arg19Gln variant does not suggest an association with disease, given the lack of clinical and functional data, its significance is uncertain at this time. |
| Labcorp Genetics |
RCV000724946 | SCV002449898 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |