ClinVar Miner

Submissions for variant NC_000010.10:g.(?_104263900)_(104389922_?)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 RCV001951523 SCV002242851 pathogenic Gorlin syndrome; Medulloblastoma 2021-09-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SUFU gene has been identified. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with nevoid basal-cell carcinoma syndrome-like phenotypes and severe cognitive impairment (PMID: 12068298). For these reasons, this variant has been classified as Pathogenic.

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