ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.-5T>G

dbSNP: rs1553348652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583705 SCV000689942 likely benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing
Invitae RCV003767309 SCV004685064 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-06-14 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. ClinVar contains an entry for this variant (Variation ID: 491739). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the MSH2 gene. It does not change the encoded amino acid sequence of the MSH2 protein.
All of Us Research Program, National Institutes of Health RCV004002325 SCV004824490 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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