ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.282G>A (p.Glu94=)

gnomAD frequency: 0.00001  dbSNP: rs576942328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221705 SCV000278074 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759204 SCV000888412 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV002057220 SCV002341778 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-16 criteria provided, single submitter clinical testing

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