ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1128A>C (p.Pro376=)

gnomAD frequency: 0.00006  dbSNP: rs367774545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123072 SCV000166367 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162650 SCV000213088 likely benign Hereditary cancer-predisposing syndrome 2014-07-12 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.
GeneDx RCV001704043 SCV000516712 likely benign not provided 2020-02-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162650 SCV000686094 likely benign Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162650 SCV002529756 likely benign Hereditary cancer-predisposing syndrome 2021-06-27 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509229 SCV002819341 likely benign not specified 2022-12-08 criteria provided, single submitter clinical testing

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