Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412353 | SCV000489139 | likely benign | Colorectal cancer, susceptibility to, 10 | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000444778 | SCV000518040 | benign | not specified | 2015-11-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586956 | SCV000698005 | benign | not provided | 2016-05-19 | criteria provided, single submitter | clinical testing | Variant summary: The POLD1 c.3218+10A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 3172/55760 control chromosomes (370 homozygotes) at a frequency of 0.0568867, which is approximately 4005 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign. |
Prevention |
RCV000444778 | SCV000806528 | benign | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412353 | SCV001719070 | benign | Colorectal cancer, susceptibility to, 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000444778 | SCV002551991 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446632 | SCV002612197 | benign | Hereditary cancer-predisposing syndrome | 2015-05-21 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
KCCC/NGS Laboratory, |
RCV000412353 | SCV004016615 | benign | Colorectal cancer, susceptibility to, 10 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000444778 | SCV002034704 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000444778 | SCV002036067 | benign | not specified | no assertion criteria provided | clinical testing |