ClinVar Miner

Variants from Hereditary Research Laboratory, Bethlehem University with conflicting interpretations

Location: Palestine, State of — Primary collection method: research
Minimum review status of the submission from Hereditary Research Laboratory, Bethlehem University: Collection method of the submission from Hereditary Research Laboratory, Bethlehem 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
40 8 1 5 0 0 1 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
Hereditary Research Laboratory, Bethlehem University pathogenic likely pathogenic uncertain significance
pathogenic 1 5 1

Submitter to submitter summary #

Total submitters: 5
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
Counsyl 0 0 0 4 0 0 0 4
Baylor Genetics 0 2 0 0 0 0 1 1
GeneReviews 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001128840.3(CACNA1D):c.1220+597C>T rs759274321
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345

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