ClinVar Miner

Submissions for variant GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories RCV000053203 SCV000080561 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 1 RCV000509068 SCV000080527 pathogenic See cases 2011-05-06 no assertion criteria provided clinical testing
ISCA site 1 RCV000050688 SCV000175275 likely pathogenic See cases 2018-02-14 no assertion criteria provided clinical testing
ISCA site 1 RCV000142666 SCV000176693 pathogenic See cases 2010-12-22 no assertion criteria provided clinical testing
ISCA site 1 RCV000137559 SCV000177787 pathogenic See cases 2012-10-24 no assertion criteria provided clinical testing
ISCA site 1 RCV000142804 SCV000178505 pathogenic See cases 2013-09-27 no assertion criteria provided clinical testing
ISCA site 14 RCV000148163 SCV000078020 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000050868 SCV000078201 pathogenic See cases 2011-08-12 criteria provided, single submitter clinical testing
ISCA site 4 RCV000050688 SCV000175274 pathogenic See cases 2013-06-25 no assertion criteria provided clinical testing
ISCA site 6 RCV000053191 SCV000080549 pathogenic See cases 2011-08-12 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.