ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.378C>T (p.His126=) (rs768488890)

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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 RCV000167190 SCV000218027 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504225 SCV000596473 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000557857 SCV000625649 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000504225 SCV000729480 likely benign not specified 2018-02-21 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.

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