ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.387G>A (p.Ala129=)

dbSNP: rs876658275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220844 SCV000273302 likely benign Hereditary cancer-predisposing syndrome 2015-01-07 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 RCV000459024 SCV000562213 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220844 SCV000904846 likely benign Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193968 SCV001363164 likely benign not specified 2019-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001312103 SCV001935408 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing

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