ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.-13C>A (rs886060499)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269393 SCV000456897 uncertain significance Ehlers-Danlos syndrome dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000485044 SCV000573472 uncertain significance not provided 2018-01-17 criteria provided, single submitter clinical testing The c.-13 C>A variant has not beenpublished as pathogenic or been reported as benign to our knowledge. The c.-13 C>A variant is not observed in largepopulation cohorts; however, limited data are available (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server). This substitution occurs at a nucleotide position that is conserved across species. However,this variant is not predicted to impact the Kozak sequence or create a cryptic ATG initiation site. Furthermore, noregulatory variants in the ADAMTS2 gene have been reported in the Human Gene Mutation Database in associationwith EDS (Stenson et al., 2014).

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