ClinVar Miner

Variants from ClinGen PAH Variant Curation Expert Panel with conflicting interpretations

Location: United States — Primary collection method: curation
Minimum review status of the submission from ClinGen PAH Variant Curation Expert Panel: Collection method of the submission from ClinGen PAH Variant Curation Expert Panel:
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
253 94 12 105 8 0 50 166

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
ClinGen PAH Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 60 4 0 0
likely pathogenic 40 12 21 1 0
uncertain significance 5 18 0 6 3
likely benign 0 0 1 0 3
benign 0 1 0 2 0

Submitter to submitter summary #

Total submitters: 32
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
Counsyl 0 65 0 41 1 0 18 60
Invitae 0 107 0 30 5 0 9 44
Inserm U 954, Faculté de Médecine de Nancy 0 1 12 10 0 0 16 38
Integrated Genetics/Laboratory Corporation of America 0 61 0 11 0 0 0 11
OMIM 0 33 0 8 0 0 1 9
Natera, Inc. 0 65 0 6 2 0 1 9
Illumina Clinical Services Laboratory,Illumina 0 21 0 4 3 0 1 8
Baylor Genetics 0 21 0 5 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 24 0 5 0 0 0 5
Myriad Women's Health, Inc. 0 14 0 4 0 0 0 4
Mendelics 0 3 0 2 1 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 5 0 3 0 0 0 3
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 0 0 0 1 0 0 2 3
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 2 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 3 0 2 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 10 0 1 0 0 0 1
GeneReviews 0 6 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 1 0 0 0 1
Medical Genetics Center,Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 6 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 166
Download table as spreadsheet
HGVS dbSNP
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.*144A>G rs375319584
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1163T>C (p.Val388Ala) rs281865435
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) rs62516142
NM_000277.3(PAH):c.1196T>C (p.Val399Ala) rs281865436
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1200-1G>A rs62507322
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.285C>T (p.Ile95=)
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623
NM_000277.3(PAH):c.3G>C (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+4A>G rs62508586
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) rs281865433
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+6T>A rs62517196
NM_000277.3(PAH):c.970-1G>A rs202183605

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