ClinVar Miner

Variants from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics with conflicting interpretations

Location: Cyprus — Primary collection method: curation
Minimum review status of the submission from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics: Collection method of the submission from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics:
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
196 63 0 25 2 0 2 29

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
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics likely pathogenic uncertain significance likely benign
pathogenic 23 1 1
benign 0 2 2

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
Counsyl 0 14 0 13 0 0 1 14
Integrated Genetics/Laboratory Corporation of America 0 46 0 7 1 0 0 8
Natera, Inc. 0 11 0 2 0 0 1 3
Mendelics 0 1 0 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 1 1 0 0 2
Myriad Women's Health, Inc. 0 17 0 2 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.30dup (p.Ala11fs)
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-23T>C rs111851677

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