ClinVar Miner

Variants from Agnes Ginges Centre for Molecular Cardiology,Centenary Institute with conflicting interpretations

Location: Australia — Primary collection method: research
Minimum review status of the submission from Agnes Ginges Centre for Molecular Cardiology,Centenary Institute: Collection method of the submission from Agnes Ginges Centre for Molecular Cardiology,Centenary Institute:
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
218 75 0 32 10 1 14 53

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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 13 2 0 0 0
likely pathogenic 15 0 8 0 0 0
uncertain significance 2 2 0 1 0 0
likely benign 0 0 7 0 2 1
benign 0 0 2 2 0 0

Submitter to submitter summary #

Total submitters: 25
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 55 0 12 2 0 9 23
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 34 0 9 2 0 0 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 9 0 2 2 0 3 7
GeneDx 0 5 0 1 3 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 3 0 0 1 4
Ambry Genetics 0 6 0 3 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 3 0 3 0 0 0 3
Blueprint Genetics 0 10 0 2 1 0 0 3
CSER _CC_NCGL, University of Washington 0 6 0 1 2 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 1 1 0 2
Center for Human Genetics,University of Leuven 0 9 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 1 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 1 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 2 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 5 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 1 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000256.3(MYBPC3):c.1224-52G>A
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.848+1G>A rs772984053
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004572.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098
NM_198056.2(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.5126C>T (p.Thr1709Met) rs199473297

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