ClinVar Miner

Variants from Foundation for Research in Genetics and Endocrinology,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,Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology,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
143 28 4 34 3 2 14 52

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,Institute of Human Genetics pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 4 21 1 1 2 2
likely pathogenic 15 0 3 3 3 2
uncertain significance 6 1 0 2 2 0

Submitter to submitter summary #

Total submitters: 46
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
GeneDx 0 17 0 7 1 0 7 15
Counsyl 0 11 0 14 0 0 1 15
Invitae 0 14 0 8 2 0 5 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 13 0 4 0 0 7 11
OMIM 0 20 0 6 0 2 3 9
GeneReviews 0 2 4 4 0 0 1 8
Genetic Services Laboratory, University of Chicago 0 5 0 2 2 0 2 6
PreventionGenetics 0 0 0 1 0 0 4 5
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 0 0 5 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 2 0 0 2 4
Ambry Genetics 0 8 0 3 0 0 1 4
Integrated Genetics/Laboratory Corporation of America 0 10 0 4 0 0 0 4
Fulgent Genetics 0 5 0 4 0 0 0 4
Athena Diagnostics Inc 0 3 0 0 1 0 2 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 1 0 0 2 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 2 0 0 0 2
Mendelics 0 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 221 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 0 2
ARUP Institute,ARUP Laboratories 0 0 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 5 0 1 0 0 0 1
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
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 1 0 1 0 0 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
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 0 0 1
HerediLab, Inc. 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 0 0 1 1
Center for Statistical Genetics,Baylor College of Medicine 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 1 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 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
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
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

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000044.4(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000053.3(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000151.3(G6PC):c.150_151delGT (p.Trp50Cysfs) rs1057516674
NM_000157.3(GBA):c.1448T>C rs421016
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.5(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.5(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.5(HEXA):c.459+5G>A rs762060470
NM_000520.5(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.5(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.5(HEXA):c.672+30T>G rs117160567
NM_000520.5(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_001005741.2(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter) rs181011657
NM_001122757.2(POU1F1):c.712_716delGAAAG (p.Arg239Lysfs) rs772390221
NM_001128227.2(GNE):c.97G>T (p.Glu33Ter) rs886044514
NM_001202435.2(SCN1A):c.602+1G>A rs794726827
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004580.4(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_005476.5(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006772.2(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) rs80357678
NM_020223.3(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020919.3(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) rs312262720
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_133378.4(TTN):c.41249T>C (p.Ile13750Thr) rs72677243
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
NM_173076.2(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_178012.4(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_198576.3(AGRN):c.1198C>T (p.Arg400Trp) rs149636063

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