ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1569C>T (p.Ser523=)

dbSNP: rs141458772
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234579 SCV000285075 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000441058 SCV000533494 likely benign not specified 2016-10-31 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.
Color Diagnostics, LLC DBA Color Health RCV000583661 SCV000691027 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000583661 SCV002530205 likely benign Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation
Ambry Genetics RCV000583661 SCV002707778 likely benign Hereditary cancer-predisposing syndrome 2020-03-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441058 SCV003844469 likely benign not specified 2023-02-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477794 SCV004218960 likely benign not provided 2023-02-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998787 SCV004844182 likely benign Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing

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