ClinVar Miner

Variants from Johns Hopkins Genomics,Johns Hopkins University with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Johns Hopkins Genomics,Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics,Johns Hopkins University:
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 Variants with at least 2 submissions 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 kind of conflict
12 5 0 11 6 1 3 12

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
Johns Hopkins Genomics,Johns Hopkins University pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 2 0 0 0 1 1
likely pathogenic 1 0 1 0 0 0 0
likely benign 1 1 3 0 5 0 0
benign 1 0 3 3 0 0 0

Submitter to submitter summary #

Total submitters: 17
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 4 0 4 1 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 1 3 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 2 2 0 0 4
GeneDx 0 3 0 2 1 0 0 3
OMIM 0 3 0 0 0 1 1 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 1 0 1 2
GeneReviews 0 1 0 1 0 0 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 2 0 0 0 2
PreventionGenetics 0 1 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1 1
Mendelics 0 1 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001363.5(DKC1):c.1512_1514delGAA (p.Lys505del) rs782576893
NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661

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