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 Variants with at least 2 submissions 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 kind of conflict
73 62 2 59 29 1 34 96

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 2 28 6 0 0 0
likely pathogenic 13 0 10 0 0 0
uncertain significance 9 13 0 4 3 0
likely benign 1 2 19 0 9 1
benign 0 0 6 9 0 0

Submitter to submitter summary #

Total submitters: 50
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 92 0 19 4 1 12 36
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 71 0 13 12 0 10 35
GeneDx 0 72 0 10 12 0 12 34
Ambry Genetics 0 41 0 15 6 0 8 29
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 25 0 13 4 0 1 18
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 17 0 6 2 0 7 15
Blueprint Genetics 0 36 0 6 6 0 0 12
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 9 0 7 4 0 0 11
CSER _CC_NCGL, University of Washington 0 8 0 3 4 0 3 10
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 8 1 0 1 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 14 0 3 4 1 1 9
OMIM 0 21 0 1 2 0 5 8
Mendelics 0 5 0 3 4 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 10 0 3 2 0 2 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 2 4 0 1 7
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 10 0 2 4 0 0 6
Color 0 10 0 4 1 0 0 5
Athena Diagnostics Inc 0 0 0 4 0 0 0 4
Center for Human Genetics,University of Leuven 0 11 0 2 0 0 2 4
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 16 0 1 3 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 10 0 1 2 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 5 0 2 0 0 1 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 5 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 18 0 1 1 0 0 2
GeneReviews 0 0 2 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 1 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 6 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
PreventionGenetics,PreventionGenetics 0 2 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 12 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 4 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 0 0 0 0 1 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 2 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 8 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 6 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020
NM_000256.3(MYBPC3):c.3628-41_3628-17del25 rs36212066
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
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.1954A>G (p.Arg652Gly) rs727504239
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
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.2207T>C (p.Ile736Thr) rs727503261
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.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2581G>A (p.Glu861Lys) rs868789318
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
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_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000258.2(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs) rs756159737
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001018005.2(TPM1):c.240+4430G>A rs397516490
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.848+1G>A rs772984053
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003673.3(TCAP):c.34_36GAG[1] (p.Glu13del) rs397516862
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
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.510G>C (p.Glu170Asp) rs144888041
NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_013995.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172201.1(KCNE2):c.29C>T (p.Thr10Met) rs199473648
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
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.2441G>A (p.Arg814Gln) rs199473584
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454
NM_213569.2(NEBL):c.357+73473C>G rs147622517

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