ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.496C>T (p.Leu166=) (rs876659249)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222058 SCV000275495 likely benign Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing
Color RCV000222058 SCV000686211 likely benign Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000421114 SCV000523863 likely benign not specified 2016-10-20 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.
Invitae RCV000530630 SCV000625661 likely benign Hereditary nonpolyposis colon cancer 2017-09-30 criteria provided, single submitter clinical testing

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