ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.183-4del

dbSNP: rs1345403982
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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 RCV000566079 SCV000675296 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-18 criteria provided, single submitter clinical testing The c.183-4delG intronic variant, located in intron 1 of the SUFU gene, results from a deletion of one nucleotide within intron 1 of the SUFU 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001416587 SCV001618770 likely benign Gorlin syndrome; Medulloblastoma 2023-01-24 criteria provided, single submitter clinical testing

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