ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1689A>G (p.Arg563=) (rs551226281)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559886 SCV000625551 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571228 SCV000663439 likely benign Hereditary cancer-predisposing syndrome 2016-03-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Color RCV000571228 SCV000691041 likely benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164193 SCV001326302 likely benign Hereditary nonpolyposis colorectal cancer type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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