ClinVar Miner

Variants from National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health: Collection method of the submission from National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health:
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
17 20 0 26 2 0 8 31

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
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 1 0 0
likely pathogenic 9 0 7 1 0
uncertain significance 0 0 0 1 2

Submitter to submitter summary #

Total submitters: 41
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
Invitae 0 29 0 8 2 0 1 11
Counsyl 0 6 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 5 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 3 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 4 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 5 0 0 1 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 1 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 2 0 0 0 0 2 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 4 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 1 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 6 0 1 0 0 1 2
OMIM 0 4 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 1 0 0 1
GeneDx 0 1 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Revvity Omics, Revvity 0 6 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 2 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 16 0 1 0 0 0 1
Natera, Inc. 0 10 0 0 1 0 0 1
Sharing Clinical Reports Project (SCRP) 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 0 0 1 1
Robarts Research Institute, Western University 0 3 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 0 0 1 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503

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