Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250737 | SCV000313146 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000350559 | SCV000407089 | benign | Dyskeratosis congenita, autosomal recessive 3 | 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. |
Illumina Laboratory Services, |
RCV000319448 | SCV000483682 | likely benign | Li-Fraumeni syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000250737 | SCV000540675 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
ARUP Laboratories, |
RCV000250737 | SCV000605620 | benign | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001516490 | SCV001724778 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001516490 | SCV001861730 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338806 | SCV002635117 | benign | Dyskeratosis congenita | 2015-10-08 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Unidad de Genómica Garrahan, |
RCV000250737 | SCV004232763 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 23. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001516490 | SCV005218664 | likely benign | not provided | criteria provided, single submitter | not provided |