ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11089282)_(11131359_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033045 SCV001196352 pathogenic Familial hypercholesterolemia 2021-08-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the LDLR gene has been identified. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). 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 hypercholesterolemia (PMID: 22881376). For these reasons, this variant has been classified as Pathogenic.

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