List of variants reported as likely pathogenic for Aortic aneurysm, familial thoracic 4 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001040113.2(MYH11):c.654+1G>A	rs770424951
NM_002474.3(MYH11):c.2180+1G>A
NM_002474.3(MYH11):c.2998-2A>G
NM_002474.3(MYH11):c.3506+1G>A	rs2151240720
NM_002474.3(MYH11):c.3652-2A>G
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)	rs1555554139
NM_002474.3(MYH11):c.3858+1G>A	rs2151225126
NM_002474.3(MYH11):c.3963+1G>C	rs2151219802
NM_002474.3(MYH11):c.3963+1G>T
NM_002474.3(MYH11):c.3963+2T>C	rs111325146
NM_002474.3(MYH11):c.5171+2T>C
NM_002474.3(MYH11):c.530+2T>C
NM_002474.3(MYH11):c.633+1G>A
NM_002474.3(MYH11):c.634-2A>C

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.