Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000202209 | SCV000170364 | benign | not specified | 2014-03-14 | 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. |
Counsyl | RCV000411208 | SCV000488085 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2015-12-22 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000590707 | SCV000695889 | benign | not provided | 2016-01-04 | criteria provided, single submitter | clinical testing | Variant summary: This c.3801+17T>C variant affects a non-conserved intronic nucleotide at a location not widely known to affect normal splicing. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. In addition, ESEfinder also predicts that this variant does not affect ESE sites. This variant is found in 51/10276 African control chromosomes (including 1 homozygote) at a frequency of 0.00496, which is about 34 times greater than the maximal expected frequency of a pathogenic allele (0.0001421) in this gene, suggesting this variant is benign. In addition, two clinical laboratories have classified this variant as benign/likely benign. Taken together, this variant was classified as Benign. |
Prevention |
RCV000202209 | SCV000805897 | benign | not specified | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Color | RCV000771088 | SCV000902648 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000411208 | SCV001135848 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000202209 | SCV001158693 | benign | not specified | 2019-03-27 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000202209 | SCV000257280 | likely benign | not specified | no assertion criteria provided | research |