ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3647-4A>C

gnomAD frequency: 0.00009  dbSNP: rs1464965737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559786 SCV000624897 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456043 SCV002613830 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The c.3647-4A>C intronic variant results from an A to C substitution 4 nucleotides upstream from coding exon 8 in the MSH6 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003696 SCV004817399 likely benign Lynch syndrome 2023-03-09 criteria provided, single submitter clinical testing

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