ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1167A>G (p.Ala389=)

gnomAD frequency: 0.00001  dbSNP: rs748920792
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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 RCV000214433 SCV000273836 likely benign Hereditary cancer-predisposing syndrome 2015-02-03 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 RCV001089110 SCV000562230 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679347 SCV000601809 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214433 SCV000686100 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679347 SCV000806164 likely benign not provided 2016-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507979 SCV001360705 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000679347 SCV001904099 benign not provided 2015-03-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000214433 SCV002529762 likely benign Hereditary cancer-predisposing syndrome 2021-12-10 criteria provided, single submitter curation

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