Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081021 | SCV000287620 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000235427 | SCV000293928 | uncertain significance | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32041611, 20951805, 29717118, 19966286, 35620275, 12376507) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781761 | SCV000920063 | uncertain significance | not specified | 2018-01-02 | criteria provided, single submitter | clinical testing | Variant summary: The POLD1 c.3257G>A (p.Arg1086Gln) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant was found in 25/268244 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000871 (20/22966). This frequency is about 61 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this is possibly a benign polymorphism found primarily in the populations of African origin. This population frequency data need to be considered with caution, since POLD1 pseudogenes have been reported. Two clinical diagnostic laboratories classified this variant as uncertain significance. Taken together, this variant is classified as VUS-possibly benign. |
Sema4, |
RCV002256144 | SCV002534670 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-08 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000781761 | SCV004027036 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |