ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1260G>A (p.Leu420=)

dbSNP: rs1554297974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538413 SCV000625515 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776867 SCV000912531 likely benign Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776867 SCV002675360 likely benign Hereditary cancer-predisposing syndrome 2017-09-28 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.

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