ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.354-3C>T

dbSNP: rs587782632
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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 RCV000132020 SCV000187079 likely benign Hereditary cancer-predisposing syndrome 2022-03-21 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.
Color Diagnostics, LLC DBA Color Health RCV000132020 SCV000911787 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000799183 SCV000938836 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-06-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002483269 SCV002774698 uncertain significance not provided 2021-08-18 criteria provided, single submitter clinical testing

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