ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.414_416del (p.Leu139del)

dbSNP: rs1554694678
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
GeneDx RCV001561980 SCV001784678 likely pathogenic not provided 2020-08-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27899157)
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583898 SCV000692120 likely pathogenic Pseudohermaphroditism 2016-08-25 no assertion criteria provided 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.