ClinVar Miner

Submissions for variant NC_000016.10:g.173736A>G

gnomAD frequency: 0.86184  dbSNP: rs2685121
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454480 SCV000539269 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 1966/2178= 90.26%
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000454480 SCV001159015 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001618692 SCV001843809 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15365991)
Breakthrough Genomics, Breakthrough Genomics RCV001618692 SCV005294247 benign not provided criteria provided, single submitter not provided
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078238 SCV001244380 benign alpha Thalassemia 2019-11-25 no assertion criteria provided curation

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.