ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1297-5C>T

dbSNP: rs1275187815
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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 RCV001010815 SCV001171067 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The c.1297-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 11 in the SUFU gene. This nucleotide position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549327 SCV003269953 likely benign Gorlin syndrome; Medulloblastoma 2023-11-14 criteria provided, single submitter clinical testing

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