ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1248C>A (p.Ser416=)

gnomAD frequency: 0.00011  dbSNP: rs780709321
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214038 SCV000273781 likely benign Hereditary cancer-predisposing syndrome 2015-01-29 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.
Invitae RCV001084060 SCV000285052 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000422339 SCV000518181 benign not specified 2015-09-16 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.
Color Diagnostics, LLC DBA Color Health RCV000214038 SCV000686111 likely benign Hereditary cancer-predisposing syndrome 2016-04-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759193 SCV000888386 likely benign not provided 2019-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422339 SCV001748788 likely benign not specified 2021-07-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000214038 SCV002529778 likely benign Hereditary cancer-predisposing syndrome 2021-01-23 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003997822 SCV004836380 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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