ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.691-4C>T (rs1557474961)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000776996 SCV000912672 likely benign Hereditary cancer-predisposing syndrome 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV000938122 SCV001083924 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776996 SCV001188055 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-22 criteria provided, single submitter clinical testing The c.691-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 9 in the MUTYH 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 site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001479624 SCV001683929 likely benign MYH-associated polyposis 2020-09-03 criteria provided, single submitter clinical testing

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