ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1224T>C (p.Thr408=)

dbSNP: rs1554298007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568984 SCV000670838 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589305 SCV000697285 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV000978947 SCV001126884 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-11-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000568984 SCV001339888 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000589305 SCV002071652 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing

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