ClinVar Miner

List of variants reported as benign for Cornelia de Lange syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_005445.3(SMC3):c.2535+28delT rs397847637
NM_005445.3(SMC3):c.3039A>G (p.Ser1013=) rs2419565
NM_005445.3(SMC3):c.351-9T>C rs78663177
NM_005445.3(SMC3):c.724-6dup rs11380915
NM_005445.3(SMC3):c.970-8G>A rs11195199
NM_006306.3(SMC1A):c.-19C>T rs1264011
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200

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.