ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.706-5T>C

dbSNP: rs1203452929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630415 SCV000751371 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360503 SCV002663010 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-25 criteria provided, single submitter clinical testing The c.706-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the PMS2 gene. This nucleotide position is conserved on limited sequence alignment. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002360503 SCV004359666 likely benign Hereditary cancer-predisposing syndrome 2020-01-28 criteria provided, single submitter clinical testing

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