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
182 98 0 44 11 1 15 66

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 14 2 0 0 0
likely pathogenic 24 0 6 0 0 0
uncertain significance 3 4 0 3 0 0
likely benign 0 0 7 0 3 1
benign 0 0 1 3 0 0

Submitter to submitter summary #

Total submitters: 36
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 62 0 19 2 0 7 28
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 42 0 9 3 0 1 13
Ambry Genetics 0 15 0 5 2 0 1 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 9 0 2 2 0 3 7
All of Us Research Program, National Institutes of Health 0 32 0 2 1 0 3 6
GeneDx 0 11 0 4 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 6 0 4 0 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 3 0 0 1 4
CeGaT Center for Human Genetics Tuebingen 0 1 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 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
Eurofins Ntd Llc (ga) 0 1 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 1 1 0 0 2
Center for Human Genetics, University of Leuven 0 9 0 0 0 0 2 2
Color Diagnostics, LLC DBA Color Health 0 5 0 1 1 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 1 0 0 1
PreventionGenetics, part of Exact Sciences 0 2 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 2 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Illumina Laboratory Services, 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 4 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 7 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
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 2 0 1 0 0 0 1
Cohesion Phenomics 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
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_000256.3(MYBPC3):c.927-1G>C rs2095894178
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.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
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.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.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411

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