Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000372313 | SCV000363468 | benign | H syndrome | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Eurofins Ntd Llc |
RCV000118379 | SCV000863255 | benign | not specified | 2018-09-11 | criteria provided, single submitter | clinical testing | |
Bioinformatics Institute, |
RCV000851366 | SCV000993671 | drug response | Gemcitabine response | 2017-01-01 | criteria provided, single submitter | research | |
Invitae | RCV000372313 | SCV001719495 | benign | H syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636671 | SCV001850401 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28842327) |
Genome- |
RCV000372313 | SCV002056926 | benign | H syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000118379 | SCV004102613 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 86% of patients studied by a panel of primary immunodeficiencies. Number of patients: 83. Only high quality variants are reported. |
Genetic Services Laboratory, |
RCV000118379 | SCV000152779 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Genome |
RCV001636671 | SCV002074752 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. | |
Clinical Genomics, |
RCV002221488 | SCV002498766 | association | Acanthosis nigricans | no assertion criteria provided | research | Mutations in this gene can predispose to acanthosis nigricans in patients with insulin dependent diabetes. |