ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1368T>C (p.Ser456=)

gnomAD frequency: 0.00001  dbSNP: rs587780723
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123076 SCV000166371 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562046 SCV000670765 likely benign Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV000562046 SCV000911286 likely benign Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255469 SCV001431884 likely benign not specified 2020-08-03 criteria provided, single submitter clinical testing
GeneDx RCV001711209 SCV001944513 benign not provided 2015-05-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149839 SCV003838388 likely benign Breast and/or ovarian cancer 2021-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711209 SCV004010653 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PMS2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003997414 SCV004844231 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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