ClinVar Miner

Variants from Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II with conflicting interpretations

Location: Italy  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II: Collection method of the submission from Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
6 23 0 64 0 0 25 67

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
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 3 2 0
likely pathogenic 44 0 19 5 1

Submitter to submitter summary #

Total submitters: 55
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
Labcorp Genetics (formerly Invitae), Labcorp 0 32 0 31 0 0 4 35
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 18 0 24 0 0 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 19 0 20 0 0 0 20
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 24 0 9 0 0 9 18
Color Diagnostics, LLC DBA Color Health 0 18 0 14 0 0 2 16
All of Us Research Program, National Institutes of Health 0 15 0 11 0 0 3 14
Robarts Research Institute, Western University 0 8 0 11 0 0 3 14
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 15 0 14 0 0 0 14
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 14 0 11 0 0 2 13
Natera, Inc. 0 22 0 13 0 0 0 13
LDLR-LOVD, British Heart Foundation 0 54 0 9 0 0 3 12
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 11 0 0 0 11
Fundacion Hipercolesterolemia Familiar 0 9 0 4 0 0 6 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 3 0 0 5 8
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 17 0 5 0 0 3 8
Revvity Omics, Revvity 0 13 0 8 0 0 0 8
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 9 0 6 0 0 1 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 9 0 7 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 6 0 0 1 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 13 0 4 0 0 3 7
Fulgent Genetics, Fulgent Genetics 0 4 0 6 0 0 0 6
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 13 0 6 0 0 0 6
Variantyx, Inc. 0 4 0 6 0 0 0 6
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 2 0 5 0 0 0 5
Iberoamerican FH Network 0 9 0 3 0 0 2 5
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 3 4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 16 0 3 0 0 1 4
OMIM 0 8 0 4 0 0 0 4
GENinCode PLC 0 5 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 3 0 0 0 3
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 8 0 2 0 0 1 3
MGZ Medical Genetics Center 0 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 2 0 0 0 2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 1 2
Baylor Genetics 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 1
Mendelics 0 1 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 1 0 0 0 1
New York Genome Center 0 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559 0.00050
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs28942084 0.00004
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs373822756 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs121908039 0.00002
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp) rs879254797 0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg) rs879254803 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) rs141681167 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1586+1G>A rs755389753
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2312-3C>A rs875989942
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031

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