ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1023-3C>T

dbSNP: rs550262133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472764 SCV000544992 likely benign Gorlin syndrome; Medulloblastoma 2022-11-04 criteria provided, single submitter clinical testing
Mendelics RCV000988447 SCV001138165 uncertain significance Gorlin syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017042 SCV001178065 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter clinical testing The c.1023-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 9 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.

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