ClinVar Miner

Variants from ClinGen RASopathy Variant Curation Expert Panel with conflicting interpretations

Location: United States — Primary collection method: curation
Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy 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
14 65 11 143 58 0 10 175

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 RASopathy Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 6 28 2 0 0
likely pathogenic 8 0 6 0 0
uncertain significance 1 1 0 5 0
likely benign 0 0 21 0 22
benign 0 0 32 85 5

Submitter to submitter summary #

Total submitters: 33
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 0 136 0 39 11 0 5 55
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 109 0 37 14 0 1 52
GeneDx 0 128 5 27 5 0 1 38
Illumina Clinical Services Laboratory,Illumina 0 1 0 23 13 0 0 36
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 46 0 9 8 0 1 18
Integrated Genetics/Laboratory Corporation of America 0 57 0 14 2 0 0 16
PreventionGenetics,PreventionGenetics 0 35 0 15 0 0 0 15
Ambry Genetics 0 17 0 10 3 0 1 14
Database of Curated Mutations (DoCM) 0 1 0 11 0 0 0 11
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 23 0 2 6 0 1 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 7 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 40 0 2 4 0 0 6
GeneReviews 0 7 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 15 0 4 1 0 0 5
Blueprint Genetics 0 22 0 4 1 0 0 5
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 12 0 2 2 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 2 2 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 0 4 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 3 0 0 3
Athena Diagnostics Inc 0 2 0 1 1 0 0 2
Center for Human Genetics, Inc 0 5 0 0 2 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 2 0 0 0 2
OMIM 0 29 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 3 0 1 0 0 0 1
Mendelics 0 7 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 3 0 1 0 0 0 1
Genetic Testing Lab, University of Kentucky College of Medicine 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 0 8 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 175
Download table as spreadsheet
HGVS dbSNP
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) rs144166521
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.438+8A>T rs550240942
NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) rs148968935
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.3(RAF1):c.1141G>A (p.Asp381Asn) rs559632360
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.124G>A (p.Ala42Thr) rs200856000
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.3(RAF1):c.1668+4A>G rs771344560
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_002880.3(RAF1):c.581+4A>G rs201776526
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_002880.3(RAF1):c.935T>C (p.Val312Ala) rs370243307
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1433-19A>G rs369635503
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.2127+3A>G rs371976102
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004985.5(KRAS):c.451-14T>C rs372508498
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) rs150565592
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) rs137852814
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1770G>A (p.Glu590=) rs553331572
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2238T>C (p.Asn746=) rs75877625
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.2997T>C (p.Asn999=) rs145364368
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3072C>T (p.Leu1024=) rs558386297
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_006049.4(SNAPC5):c.*169G>A rs150841154
NM_006049.4(SNAPC5):c.*208A>G rs200293968
NM_006049.4(SNAPC5):c.*961_*964AATA[1] rs397516788
NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) rs146147503
NM_007373.3(SHOC2):c.1423-7C>T rs180671383
NM_007373.3(SHOC2):c.1540+8C>T rs771283010
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) rs730881018
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_030662.3(MAP2K2):c.*8C>T rs377675706
NM_030662.3(MAP2K2):c.1093-6T>C rs369681843
NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) rs543217722
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) rs139404261
NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) rs148291450
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) rs145934142
NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) rs587781027
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_033360.4(KRAS):c.*73T>C rs1137282
NM_033360.4(KRAS):c.*82_*84GAA[1] rs397517043
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.24A>G (p.Val8=) rs147406419
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140

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