ClinVar Miner

Submissions for variant NM_005215.4(DCC):c.4028G>A (p.Arg1343His)

dbSNP: rs149118168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002524685 SCV003752864 likely benign Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CSER _CC_NCGL, University of Washington RCV000417322 SCV000503536 uncertain significance Colorectal cancer 2016-08-01 no assertion criteria provided research This gene does not have an established association with colon cancer risk. Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 35 year old with a history of 2 colon polyps and a family history of colon cancer.

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