ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.441C>T (p.Thr147=)

dbSNP: rs1583403457
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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 RCV001022454 SCV001184193 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 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 RCV001022454 SCV001347868 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 criteria provided, single submitter clinical testing
Invitae RCV001483819 SCV001688226 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-03-27 criteria provided, single submitter clinical testing

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