ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1437C>T (p.His479=)

dbSNP: rs63750685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166894 SCV000217711 likely benign Hereditary cancer-predisposing syndrome 2014-12-01 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.
Invitae RCV000456687 SCV000562224 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166894 SCV000686127 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000605177 SCV000729485 likely benign not specified 2017-11-03 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284200 SCV001469853 likely benign not provided 2019-12-24 criteria provided, single submitter clinical testing

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