ClinVar Miner

Variants from ClinVar Staff, National Center for Biotechnology Information (NCBI) with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from ClinVar Staff, National Center for Biotechnology Information (NCBI): Collection method of the submission from ClinVar Staff, National Center for Biotechnology Information (NCBI):
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
596 516 0 23 4 6 17 46

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
ClinVar Staff, National Center for Biotechnology Information (NCBI) pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 2 1 0 0 0 0
likely pathogenic 20 0 4 3 1 0 0
uncertain significance 8 5 0 2 3 0 1
likely benign 0 0 0 0 1 0 0
protective 4 0 0 1 0 1 0

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
OMIM 0 22 0 20 0 5 7 32
GeneDx 0 14 0 2 1 1 5 9
Invitae 0 11 0 2 1 0 5 8
Ambry Genetics 0 11 0 2 1 0 3 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 31 0 1 2 0 3 6
Integrated Genetics/Laboratory Corporation of America 0 50 0 1 0 1 3 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 9 0 0 1 1 2 4
GeneReviews 0 3 0 2 0 0 2 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 2 3
Counsyl 0 87 0 0 0 0 3 3
Fulgent Genetics 0 2 0 2 0 0 1 3
Baylor Miraca Genetics Laboratories, 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 0 2
Blueprint Genetics, 0 0 0 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 0 8 0 1 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 11 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 0 0 1
Mahdieh Medical Diagnostic Center,Falavarjan Branch, Islamic Azad University 0 0 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000040.1(APOC3):c.55C>T (p.Arg19Ter) rs76353203
NM_000040.2(APOC3):c.127G>A (p.Ala43Thr) rs147210663
NM_000040.2(APOC3):c.55+1G>A rs138326449
NM_000040.3(APOC3):c.179+1G>T rs140621530
NM_000153.3(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000528.3(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.3(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.3(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.3(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.3(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001142519.2(FAM111A):c.1012A>G (p.Thr338Ala) rs587777014
NM_001142519.2(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001142519.2(FAM111A):c.1579C>A (p.Pro527Thr) rs587777015
NM_001142519.2(FAM111A):c.1583A>G (p.Asp528Gly) rs587777013
NM_001142520.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_002900.2(RBP3):c.1631G>A (p.Arg544His) rs41284962
NM_002900.2(RBP3):c.2168C>T (p.Pro723Leu) rs148247227
NM_003441.3(ZNF141):c.1421C>T (p.Thr474Ile) rs587776959
NM_004700.3(KCNQ4):c.806_808delCCT (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
NM_005228.4(EGFR):c.2126A>G (p.Glu709Gly) rs397517085
NM_012208.3(HARS2):c.598C>G (p.Leu200Val) rs397515410
NM_016180.4(SLC45A2):c.1122C>G (p.Phe374Leu) rs16891982
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_032578.3(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.3(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_052845.3(MMAB):c.56_57delGCinsAA (p.Arg19Gln) rs36013132
NM_152490.4(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.4(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.4(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.4(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076

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