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 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
117 3 0 9 0 1 1 10

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 risk factor
pathogenic 0 2 0 0
likely pathogenic 7 0 1 1

Submitter to submitter summary #

Total submitters: 9
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
OMIM 0 0 0 4 0 1 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
GeneDx 0 2 0 0 0 0 1 1
Counsyl 0 3 0 1 0 0 0 1
GeneReviews 0 1 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 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
Sharon lab,Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)
NM_001136271.2(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys) rs143595616
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs)

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