ClinVar Miner

Submissions for variant NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) (rs886050982)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000363303 SCV000898508 uncertain significance Weill-Marchesani syndrome 4 2018-05-02 criteria provided, single submitter clinical testing ADAMTS17 NM_139057.3 exon 2 p.Ala56= (c.168C>T):This variant has not been reported in the literature but is present in 20/388 Latino alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). This variant is present in ClinVar (Variation ID:315323). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000363303 SCV000389988 uncertain significance Weill-Marchesani syndrome 4 2016-06-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.