ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.795T>C (p.Asn265=) (rs766667186)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214910 SCV000273936 likely benign Hereditary cancer-predisposing syndrome 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000441268 SCV000524191 likely benign not specified 2017-01-04 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.
Color RCV000214910 SCV000686240 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759927 SCV000889640 likely benign not provided 2018-08-23 criteria provided, single submitter clinical testing
Invitae RCV001088373 SCV001014900 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759927 SCV001155034 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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