ClinVar Miner

Variants from Genetics and Genomics Program,Sidra Medicine with conflicting interpretations

Location: Qatar — Primary collection method: research
Minimum review status of the submission from Genetics and Genomics Program,Sidra Medicine: Collection method of the submission from Genetics and Genomics Program,Sidra Medicine:
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
220 11 0 3 4 0 4 11

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
Genetics and Genomics Program,Sidra Medicine pathogenic uncertain significance likely benign benign
likely pathogenic 2 1 0 0
uncertain significance 3 0 1 0
likely benign 0 3 0 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
Invitae 0 9 0 3 2 0 2 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 2 3
Center for Human Genetics,University of Leuven 0 1 0 1 0 0 1 2
Blueprint Genetics 0 0 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282

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