ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2781C>T (p.Asn927=) (rs775486303)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227066 SCV000289309 benign Colorectal cancer, susceptibility to, 12 2020-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001527680 SCV000522046 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563120 SCV000671252 likely benign Hereditary cancer-predisposing syndrome 2015-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000431063 SCV001469620 benign not specified 2020-05-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287081 SCV001473725 likely benign none provided 2019-11-24 criteria provided, single submitter clinical testing

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