ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.477G>A (p.Val159=) (rs147701251)

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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 RCV000163908 SCV000214502 likely benign Hereditary cancer-predisposing syndrome 2014-08-18 criteria provided, single submitter clinical testing
Color RCV000163908 SCV000537468 likely benign Hereditary cancer-predisposing syndrome 2015-11-03 criteria provided, single submitter clinical testing
Counsyl RCV000411054 SCV000489639 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000435221 SCV000514193 benign not specified 2015-03-20 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 RCV000198465 SCV000253302 likely benign Hereditary nonpolyposis colon cancer 2017-11-04 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000163908 SCV000788116 likely benign Hereditary cancer-predisposing syndrome 2018-01-24 no assertion criteria provided clinical testing

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