Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233077 | SCV000288687 | likely benign | Oligodontia-cancer predisposition syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722243 | SCV000730153 | likely benign | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001014036 | SCV001174694 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Illumina Laboratory Services, |
RCV000233077 | SCV001280677 | benign | Oligodontia-cancer predisposition syndrome | 2017-05-21 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
ARUP Laboratories, |
RCV001722243 | SCV002048092 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001014036 | SCV002537135 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-04 | criteria provided, single submitter | curation | |
Ce |
RCV001722243 | SCV004138835 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | AXIN2: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001722243 | SCV004219220 | likely benign | not provided | 2022-10-11 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/247778 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
Mayo Clinic Laboratories, |
RCV000583675 | SCV000691776 | likely benign | not specified | no assertion criteria provided | clinical testing |