ClinVar Miner

Submissions for variant GRCh37/hg19 16p13.11(chr16:16248791-16260443)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089969 SCV001244972 pathogenic Arterial calcification, generalized, of infancy, 2 2018-04-19 criteria provided, single submitter clinical testing This sample showed a female molecular karyotype with an interstitial deletion of approximately 12 kiloabases on the short arm of one chromosome 16 at cytogenetic band p13.11. This heterozygous microdeletion involves exons 23-28 of the ABCC6 gene. Homozygous and compound heterozygous variants and deletions of this gene are associated with Generalized Arterial Calcification of Infancy (GACI GeneReviews PMID: 25392903).

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