ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Diagnostics, LLC DBA Color Health and "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=) rs138551008 0.00001
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928

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.