List of variants reported as benign for Mosaic variegated aneuploidy syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)	rs644799	0.28044
NM_014679.5(CEP57):c.753G>A (p.Pro251=)	rs11742	0.03344
NM_014679.5(CEP57):c.798A>G (p.Pro266=)	rs61903295	0.02940
NM_014679.5(CEP57):c.807+3G>A	rs181776180	0.00725
NM_014679.5(CEP57):c.333G>C (p.Gln111His)	rs117321017	0.00613
NM_014679.5(CEP57):c.979A>G (p.Ile327Val)	rs35604386	0.00453
NM_014679.5(CEP57):c.1036T>C (p.Leu346=)	rs34254650	0.00314
NM_014679.5(CEP57):c.677G>A (p.Arg226His)	rs143711180	0.00168
NM_014679.5(CEP57):c.1272+7_1272+8del	rs1491504497	0.00071
NM_014679.5(CEP57):c.807+8G>A	rs117602509	0.00029
NM_014679.5(CEP57):c.382+20T>G	rs140437159	0.00009
NM_014679.5(CEP57):c.622-9dup	rs745634452

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.