Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000724946 | SCV002449898 | likely benign | not provided | 2025-01-01 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000724946 | SCV002048564 | uncertain significance | not provided | 2024-11-21 | 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 (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.559). While the high population frequency suggests that this is likely a benign variant,, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |
| 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. |
| Eurofins Ntd Llc |
RCV000724946 | SCV000332634 | uncertain significance | not provided | 2015-07-13 | criteria provided, single submitter | clinical testing | |
| 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 |