ClinVar Miner

Variants from Laboratory of Prof. Karen Avraham,Tel Aviv University with conflicting interpretations

Location: Israel — Primary collection method: research
Minimum review status of the submission from Laboratory of Prof. Karen Avraham,Tel Aviv University: Collection method of the submission from Laboratory of Prof. Karen Avraham,Tel Aviv 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 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
63 5 2 5 0 1 2 7

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
Laboratory of Prof. Karen Avraham,Tel Aviv University pathogenic likely pathogenic uncertain significance other
pathogenic 2 5 2 1

Submitter to submitter summary #

Total submitters: 7
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
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 0 0 2 3
GeneReviews 0 0 2 0 0 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Counsyl 0 1 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 1 0 0 0 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080
NM_144612.6(LOXHD1):c.4714C>T rs75949023

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