ClinVar Miner

Submissions for variant NC_000010.10:g.(?_104376609)_(104386730_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004580385 SCV005064389 pathogenic Gorlin syndrome; Medulloblastoma 2023-06-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SUFU-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the SUFU gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219, 33024317).

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