ClinVar Miner

Variants from Hadassah Hebrew University Medical Center with conflicting interpretations

Location: Israel — Primary collection method: clinical testing
Minimum review status of the submission from Hadassah Hebrew University Medical Center: Collection method of the submission from Hadassah Hebrew University Medical Center:
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
146 13 0 19 0 0 5 22

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
Hadassah Hebrew University Medical Center pathogenic likely pathogenic uncertain significance
pathogenic 0 5 3
likely pathogenic 14 0 2

Submitter to submitter summary #

Total submitters: 31
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 9 0 8 0 0 0 8
Invitae 0 7 0 2 0 0 3 5
Baylor Genetics 0 1 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 4 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 2 0 0 1 3
Counsyl 0 2 0 2 0 0 0 2
Mendelics 0 1 0 0 0 0 2 2
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 2 0 0 0 2
Institute for Human Genetics,University Clinic Freiburg 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 1 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 6 0 1 0 0 0 1
GeneReviews 0 4 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 5 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 7 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter) rs587777772
NM_001136271.2(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
Single allele

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.