ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.6G>A (p.Glu2=)

gnomAD frequency: 0.00001  dbSNP: rs774177383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214842 SCV000276956 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 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.
Color Diagnostics, LLC DBA Color Health RCV000214842 SCV000686227 likely benign Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing
Invitae RCV001447886 SCV001650963 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003491982 SCV004239602 likely benign Breast and/or ovarian cancer 2023-01-25 criteria provided, single submitter clinical testing

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