ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1041G>A (p.Glu347=)

gnomAD frequency: 0.00003  dbSNP: rs150515238
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215730 SCV000275897 likely benign Hereditary cancer-predisposing syndrome 2015-05-14 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 RCV000432282 SCV000523323 likely benign not specified 2017-12-26 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.
Invitae RCV000460855 SCV000562207 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000432282 SCV000596470 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000215730 SCV000686092 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000432282 SCV002103535 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing

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