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
27 26 0 36 16 1 22 56

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 17 5 0 0 0
likely pathogenic 9 0 5 0 0 0
uncertain significance 6 8 0 2 1 0
likely benign 1 1 10 0 6 1
benign 0 0 3 4 0 0

Submitter to submitter summary #

Total submitters: 38
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 40 0 7 7 0 8 22
Ambry Genetics 0 23 0 14 2 0 6 22
Invitae 0 41 0 13 2 1 6 22
GeneDx 0 38 0 8 5 0 7 20
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 17 0 10 1 0 1 12
OMIM 0 11 0 1 1 0 5 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 7 0 2 2 0 3 7
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 0 4 2 0 0 6
Blueprint Genetics, 0 12 0 3 3 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 8 0 1 2 0 3 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 8 0 2 2 1 0 5
Illumina Clinical Services Laboratory,Illumina 0 7 0 2 1 0 2 5
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 1 0 4 0 0 1 5
Color 0 7 0 4 0 0 0 4
Athena Diagnostics Inc 0 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 7 0 1 2 0 0 3
Center for Human Genetics,University of Leuven 0 10 0 2 0 0 1 3
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 14 0 1 2 0 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 8 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 9 0 1 1 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 1 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 1 0 0 1
PreventionGenetics 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 1 0 0 0 1
Fulgent Genetics 0 4 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 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
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 1 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) 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_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.3(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.3(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233
NM_000257.3(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
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>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) rs367785431
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) rs397516484
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_198056.2(SCN5A):c.1756_1761delGCCCTC (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584

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