ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.537+6G>A

gnomAD frequency: 0.00002  dbSNP: rs1358613918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533313 SCV000625666 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584595 SCV000691082 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001683553 SCV001898069 likely benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000584595 SCV002530354 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001683553 SCV002774692 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on PMS2 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.

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