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 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
21 73 4 39 2 0 23 64

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 27 3 0 0
likely pathogenic 9 4 14 0 0
uncertain significance 1 5 0 2 1
benign 0 0 0 3 0

Submitter to submitter summary #

Total submitters: 22
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
Counsyl 0 40 0 24 0 0 7 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 50 0 2 0 0 8 10
Invitae 0 45 0 6 1 0 2 9
Inserm U 954, Faculté de Médecine de Nancy 0 0 4 1 0 0 4 9
GeneDx 0 38 0 5 0 0 0 5
Fulgent Genetics 0 18 0 5 0 0 0 5
OMIM 0 26 0 3 0 0 1 4
Illumina Clinical Services Laboratory,Illumina 0 15 0 4 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 44 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 19 0 1 0 0 2 3
CSER_CC_NCGL; University of Washington Medical Center 0 1 0 0 1 0 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 3 0 2 0 0 0 2
PreventionGenetics 0 4 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
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 1 0 0 0 1
Department of Prenatal Diagnosis, Center for Genetic Medicine,Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University 0 1 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 6 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) rs5030654
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.2(PAH):c.47_48delCT (p.Ser16Terfs) rs62642906
NM_000277.2(PAH):c.806delT (p.Ile269Thrfs) rs62508687
NM_000277.2(PAH):c.967_969delACA (p.Thr323del) rs199475618
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
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.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
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.506G>A (p.Arg169His) rs199475679
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.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
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.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.707-7A>T rs62508624
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.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) 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.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935

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