ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics with conflicting interpretations

Location: India — Primary collection method: clinical testing
Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
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
161 42 5 40 7 4 24 71

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 5 23 6 1 2 1 2
likely pathogenic 18 0 6 4 3 0 2
uncertain significance 8 1 0 5 3 0 0
risk factor 0 0 0 0 1 0 0

Submitter to submitter summary #

Total submitters: 57
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 28 0 11 5 1 9 26
GeneDx 0 27 0 8 2 1 8 19
Counsyl 0 13 0 15 0 0 3 18
OMIM 0 24 0 6 0 3 4 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 15 0 4 1 0 7 12
GeneReviews 0 4 5 4 0 0 1 9
Illumina Clinical Services Laboratory,Illumina 0 5 0 0 1 0 6 7
Genetic Services Laboratory, University of Chicago 0 8 0 2 2 0 2 6
Ambry Genetics 0 12 0 4 1 0 1 6
Athena Diagnostics Inc 0 3 0 0 1 0 4 5
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 4 5
Integrated Genetics/Laboratory Corporation of America 0 12 0 5 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 6 0 2 0 0 2 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 2 0 0 2 4
Fulgent Genetics,Fulgent Genetics 0 6 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 0 2 0 0 1 3
Institute of Human Genetics,Klinikum rechts der Isar 0 3 0 2 0 0 1 3
Baylor Genetics 0 9 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 1 0 1 2
Mendelics 0 4 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 2 0 0 0 2
Color 0 3 0 0 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 1 0 2
Reproductive Health Research and Development,BGI Genomics 0 2 0 1 0 0 1 2
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 0 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 1 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 273 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1 1
Research and Development, ARUP Laboratories 0 1 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 1 0 0 1
CFTR-France 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001098511.2(KIF2A):c.382T>C (p.Ser128Pro) rs138408434
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063

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