Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000759815 | SCV000567995 | uncertain significance | not provided | 2019-09-25 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759815 | SCV000889409 | uncertain significance | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000773113 | SCV000906598 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000773113 | SCV002685059 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-09-29 | criteria provided, single submitter | clinical testing | The c.-8G>T variant is located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from a G to T substitution 8 nucleotides upstream from the first translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 65,000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-8G>T remains unclear. |
All of Us Research Program, |
RCV004003309 | SCV004816406 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |