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 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
234 52 4 42 5 1 22 72

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 affects
pathogenic 4 22 6 1 2 1
likely pathogenic 20 0 5 1 1 0
uncertain significance 7 1 0 4 1 0

Submitter to submitter summary #

Total submitters: 38
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 33 0 10 2 0 8 20
Counsyl 0 8 0 13 0 0 5 18
Illumina Clinical Services Laboratory,Illumina 0 6 0 0 3 0 7 10
OMIM 0 26 0 7 0 0 2 9
GeneReviews 0 8 4 3 0 0 1 8
Broad Institute Rare Disease Group, Broad Institute 0 2 0 2 0 0 1 3
Baylor Genetics 0 9 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 8 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 13 0 2 0 0 0 2
Natera, Inc. 0 4 0 1 0 0 1 2
Mendelics 0 4 0 1 0 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 2 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 4 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 5 0 0 0 0 1 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 0 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 7 0 1 0 0 0 1
Paris Brain Institute,Inserm - ICM 0 0 0 1 0 0 0 1
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
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(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
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_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) rs1060500344
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
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.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181
NM_001848.3(COL6A1):c.850G>A 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_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_005957.5(MTHFR):c.548G>A rs574132670
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006920.6(SCN1A):c.602+1G>A
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
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_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
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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