Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227029 | SCV000287546 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679486 | SCV000520796 | likely benign | not provided | 2021-02-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572171 | SCV000670927 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-01-05 | criteria provided, single submitter | clinical testing | The c.2007-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 16 in the POLD1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Preventiongenetics, |
RCV000679486 | SCV000806484 | likely benign | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000227029 | SCV001141149 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572171 | SCV002534616 | benign | Hereditary cancer-predisposing syndrome | 2021-04-16 | criteria provided, single submitter | curation | |
Ce |
RCV000679486 | SCV004011094 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | POLD1: BP4 |
Center for Genomic Medicine, |
RCV003493539 | SCV004242995 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Molecular Oncology Laboratory, |
RCV000227029 | SCV000844937 | benign | Colorectal cancer, susceptibility to, 10 | 2018-06-01 | no assertion criteria provided | clinical testing |