ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.367-4T>C

dbSNP: rs876660764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020858 SCV001182391 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-20 criteria provided, single submitter clinical testing The c.367-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 3 in the MSH2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001451261 SCV001654888 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-12-14 criteria provided, single submitter clinical testing

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