ClinVar Miner

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

dbSNP: rs758471869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543974 SCV000625645 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-03-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 455715). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 4 of the PMS2 gene. It does not directly change the encoded amino acid sequence of the PMS2 protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985909 SCV001134599 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing

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