ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.480G>A (p.Gln160=) (rs1426242773)

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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 RCV000563192 SCV000674228 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000563192 SCV000691078 likely benign Hereditary cancer-predisposing syndrome 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV001088626 SCV001130312 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000982298 SCV001155036 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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