ClinVar Miner

Variants from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children: Collection method of the submission from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children:
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
64 48 3 41 5 1 10 55

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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 3 15 2 0 0 1
likely pathogenic 22 0 3 1 0 0
uncertain significance 4 1 0 4 2 0
likely benign 0 0 0 0 2 0
benign 0 0 1 2 0 0

Submitter to submitter summary #

Total submitters: 44
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
GeneDx 0 37 0 17 2 0 2 21
OMIM 0 33 0 14 0 1 3 18
Invitae 0 33 0 11 2 0 1 14
Integrated Genetics/Laboratory Corporation of America 0 23 0 5 2 0 3 10
Athena Diagnostics Inc 0 7 0 5 0 0 4 9
Genetic Services Laboratory, University of Chicago 0 8 0 6 1 0 2 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 26 0 8 1 0 0 9
RettBASE 0 15 0 6 0 0 3 9
GeneReviews 0 5 3 4 0 0 1 8
Ambry Genetics 0 16 0 5 0 0 1 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 24 0 5 0 0 1 6
Database of Curated Mutations (DoCM) 0 2 0 6 0 0 0 6
Fulgent Genetics 0 23 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 17 0 3 0 0 1 4
ClinGen RASopathy Variant Curation Expert Panel, 0 12 0 2 2 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 6 0 1 0 0 2 3
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 0 2 0 1 0 0 2 3
Baylor Miraca Genetics Laboratories, 0 15 0 2 0 0 0 2
Center for Human Genetics, Inc 0 7 0 1 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 1 2
Blueprint Genetics, 0 6 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 1 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 10 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 3 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_000117.2(EMD):c.60delC (p.Asn20Lysfs) rs886041854
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-2A>G
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000344.3(SMN1):c.93_96dup (p.Ile33Terfs) rs1554081950
NM_000388.3(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000782.4(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329
NM_000782.4(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_000782.4(CYP24A1):c.428_430delAAG (p.Glu143del) rs777676129
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001354609.1(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.5(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.5(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.5(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004985.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1168_1173delCCACCT (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.2(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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