Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000115294 | SCV000149203 | uncertain significance | not provided | 2013-10-14 | criteria provided, single submitter | clinical testing | The BLM 2475G>A nucleotide substitution is silent at the coding level (Pro825Pro), but is predicted by multiple in silico programs to create a new cryptic splice site. This variant has not, to our knowledge, been published in the literature as a mutation or as a benign polymorphism and has not been observed at significant allele frequency in the NHLBI ESP Exome Variant Server. Based on the current information, we cannot predict whether this variant is a benign polymorphism or a pathogenic mutation. The variant is found in BR-OV-HEREDIC panel(s). |
| Labcorp Genetics |
RCV000542801 | SCV000623272 | likely benign | Bloom syndrome | 2024-12-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000573420 | SCV000672951 | likely benign | Hereditary cancer-predisposing syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
| Mendelics | RCV000542801 | SCV000838971 | uncertain significance | Bloom syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000542801 | SCV001279007 | uncertain significance | Bloom syndrome | 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000115294 | SCV002774443 | uncertain significance | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing |