ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1549-3C>T

dbSNP: rs1188933026
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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 RCV001012075 SCV001172481 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-01 criteria provided, single submitter clinical testing The c.1549-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 12 in the APC gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003649185 SCV002194991 likely benign Familial adenomatous polyposis 1 2023-11-05 criteria provided, single submitter clinical testing

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