ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) (rs11539471)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214252 SCV000728565 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000263505 SCV000452131 benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299859 SCV000452132 benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214252 SCV000269158 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Trp536Arg in exon 19 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 30.1% (1324/4404) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://; dbSNP rs11539471).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676082 SCV000801818 benign not provided 2015-10-23 no assertion criteria provided clinical testing
PreventionGenetics RCV000214252 SCV000304073 benign not specified 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.