ClinVar Miner

Variants from Phosphorus, Inc. with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Phosphorus, Inc.: Collection method of the submission from Phosphorus, Inc.:
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
11 54 0 34 25 1 5 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
Phosphorus, Inc. pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 6 0 0 0 0
likely pathogenic 3 0 3 0 0 0
uncertain significance 0 1 0 18 6 0
likely benign 0 0 2 0 4 0
benign 1 0 5 21 0 1

Submitter to submitter summary #

Total submitters: 34
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 34 0 7 16 1 1 25
Illumina Clinical Services Laboratory,Illumina 0 16 0 18 2 0 0 20
GeneDx 0 45 0 4 12 0 1 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 31 0 3 6 0 2 11
Genetic Services Laboratory, University of Chicago 0 10 0 4 2 0 0 6
Ambry Genetics 0 21 0 3 3 0 0 6
Color 0 3 0 1 5 0 0 6
OMIM 0 5 0 1 3 0 1 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 5 0 1 3 0 1 5
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 2 0 2 1 0 1 4
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 0 2 0 0 1 3
PreventionGenetics 0 33 0 2 1 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 14 0 1 2 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 39 0 2 1 0 0 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 9 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 2 0 1 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 3 0 1 2 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 10 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 2 0 0 2
Robarts Research Institute,Western University 0 1 0 0 1 0 1 2
Athena Diagnostics Inc 0 9 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 1 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 4 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 1 0 0 0 1
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 1 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 1 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 1 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 10 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp) rs2230178
NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.2(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.4(GAA):c.*3G>A rs1800317
NM_000152.4(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.3(MYH7):c.1727A>G (p.His576Arg) rs727504238
NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.3(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000642.2(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.2(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001037.4(SCN1B):c.448+193G>A rs66876876
NM_001042492.2(NF1):c.7910G>A (p.Arg2637Gln) rs560262404
NM_001148.4(ANK2):c.2377-8C>T rs139893914
NM_001267550.2(TTN):c.10115-4G>A rs367648529
NM_002052.4(GATA4):c.822C>T (p.Cys274=) rs55980825
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.94-9dupT rs3834997
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_006440.4(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021
NM_013266.3(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015627.2(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058
NM_020433.4(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_024301.4(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.4(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024422.4(DSC2):c.1521-7C>T rs374810953
NM_133378.4(TTN):c.26986G>T (p.Val8996Phe) rs111671438
NM_133378.4(TTN):c.93278G>A (p.Arg31093Lys) rs201857158
NM_133378.4(TTN):c.97679C>T (p.Ala32560Val) rs758458467
NM_133379.4(TTN):c.13948C>T (p.Pro4650Ser) rs149748934

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