ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.324G>A (p.Gly108=)

dbSNP: rs1057522330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444114 SCV000527174 likely benign not specified 2016-04-29 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.
Invitae RCV000940329 SCV001086190 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323624 SCV002610909 likely benign Hereditary cancer-predisposing syndrome 2020-02-27 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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