ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.505-5C>T (rs878854191)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232144 SCV000285953 likely benign MYH-associated polyposis 2020-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575584 SCV000670135 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing The c.505-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 7 in the MUTYH gene. This nucleotide position is not well conserved in available vertebrate species and T is the reference allele in several mammalian species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000575584 SCV000690581 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing

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