ClinVar Miner

Variants from H3Africa Consortium with conflicting interpretations

Location: South Africa  Primary collection method: research
Minimum review status of the submission from H3Africa Consortium: Collection method of the submission from H3Africa Consortium:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
11 13 0 6 8 1 6 16

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
H3Africa Consortium pathogenic likely pathogenic uncertain significance likely benign risk factor
benign 4 2 8 6 1

Submitter to submitter summary #

Total submitters: 15
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
OMIM 0 2 0 0 1 0 3 4
PreventionGenetics, part of Exact Sciences 0 5 0 4 0 0 0 4
GeneDx 0 10 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 1 0 1 2
Genetic Services Laboratory, University of Chicago 0 3 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 0 0 0 1 1
Mendelics 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_005013.2(NUCB2):c.-406C>G rs214088 0.62041
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_000579.4(CCR5):c.-229C>T rs41469351 0.06264
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352 0.00850
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171

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.