Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433719 | SCV000518036 | benign | not specified | 2015-11-06 | 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. |
Ambry Genetics | RCV000572385 | SCV000670876 | benign | Hereditary cancer-predisposing syndrome | 2015-05-20 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587531 | SCV000698014 | benign | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | Variant summary: The POLD1 c.810T>C (p.Ala270Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 4320/81220 control chromosomes (including 653 homozygotes) at a frequency of 0.0531889, which is approximately 3744 times the estimated maximal expected allele frequency of a pathogenic POLD1 variant (0.0000142), suggesting this variant is a benign polymorphism. Taken together, this variant is classified as Benign. |
Prevention |
RCV000433719 | SCV000806560 | benign | not specified | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001511772 | SCV001719068 | benign | Colorectal cancer, susceptibility to, 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000433719 | SCV002551888 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001511772 | SCV004016617 | benign | Colorectal cancer, susceptibility to, 10 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000433719 | SCV002034410 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000433719 | SCV002036424 | benign | not specified | no assertion criteria provided | clinical testing |