Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000477152 | SCV000522012 | likely benign | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990256 | SCV000558680 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573167 | SCV000670959 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-02 | 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. |
Mendelics | RCV000990256 | SCV001141144 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000477152 | SCV001152026 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | POLD1: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000434434 | SCV001362684 | benign | not specified | 2019-01-18 | criteria provided, single submitter | clinical testing | Variant summary: POLD1 c.1596C>T results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.9e-05 in 276638 control chromosomes (gnomAD). The observed variant frequency is approximately 5-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in POLD1 causing Colorectal Cancer phenotype (1.4e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1596C>T in individuals affected with Colorectal Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Sema4, |
RCV000573167 | SCV002534597 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-17 | criteria provided, single submitter | curation |