ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.750C>T (p.Ser250=) (rs200439295)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166458 SCV000217254 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 criteria provided, single submitter clinical testing
Invitae RCV000462971 SCV000562216 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508250 SCV000601858 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing
Color RCV000166458 SCV000686233 likely benign Hereditary cancer-predisposing syndrome 2016-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000508250 SCV000729329 likely benign not specified 2018-02-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000508250 SCV000920045 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Mendelics RCV000987843 SCV001137315 likely benign Hereditary nonpolyposis colorectal cancer type 4 2019-05-28 criteria provided, single submitter clinical testing

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