ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2127C>T (p.Phe709=) (rs199943748)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000588071 SCV000225529 uncertain significance not provided 2015-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000213544 SCV000274053 likely benign Hereditary cancer-predisposing syndrome 2014-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001085912 SCV000285106 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-11-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855625 SCV000697330 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000588071 SCV000806198 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588071 SCV001747498 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000588071 SCV001870716 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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