ClinVar Miner

Submissions for variant NC_000010.10:g.(?_88441193)_(88722432_?)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 RCV002002399 SCV002233867 pathogenic Juvenile polyposis syndrome 2021-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with juvenile polyposis (PMID: 23399955). A gross deletion of the genomic region encompassing the full coding sequence of the BMPR1A gene has been identified. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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