ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "uncertain significance" from Ambry Genetics

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830

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.