ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.349+4A>G

dbSNP: rs2126690458
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001797027 SCV002038555 uncertain significance Perrault syndrome 1 2021-05-21 criteria provided, single submitter clinical testing The HSD17B4 c.349+4A>G variant is a splice region variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database (versions 2.1.1 and 3.1.1) in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the c.349+4A>G variant is classified as a variant of uncertain significance for Perrault syndrome.

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.