ClinVar Miner

Submissions for variant NC_000005.10:g.(?_147824661)_(147831792_?)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 RCV001031457 SCV001194763 pathogenic Hereditary pancreatitis 2022-01-11 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SPINK1 gene has been identified. Loss-of-function variants in SPINK1 are known to be pathogenic (PMID: 17681820, 22572128). 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 chronic pancreatitis (PMID: 17681820). For these reasons, this variant has been classified as Pathogenic.

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