ClinVar Miner

Variants from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare:
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
436 54 7 31 5 3 21 63

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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare pathogenic likely pathogenic uncertain significance likely benign drug response risk factor
pathogenic 7 20 6 1 0 2
likely pathogenic 11 0 11 0 1 0
uncertain significance 3 2 0 5 0 0

Submitter to submitter summary #

Total submitters: 35
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
Counsyl 0 6 0 8 0 0 6 14
GeneDx 0 27 0 6 1 0 2 9
GeneReviews 0 5 6 0 0 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 6 0 0 3 0 3 6
OMIM 0 30 0 2 0 2 1 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 2 1 0 2 5
Invitae 0 26 0 2 0 0 2 4
Ambry Genetics 0 12 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 1 3
ARUP Institute,ARUP Laboratories 0 2 1 2 0 0 0 3
Fulgent Genetics 0 8 0 1 0 0 1 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 5 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 2 2
Athena Diagnostics Inc 0 5 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 6 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 13 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 0 1
GeneKor MSA 0 5 0 1 0 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 0 1 1 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 551 1 0 0 0 0 1 1
Color 0 7 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 5 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 1 0 0 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 2 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 7 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 63
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3739delA (p.Ile1247Leufs) rs886040494
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183_Asn1184insGly) rs1175052474
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.5010_*14del18 rs765655100
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.81_86delACTCAT (p.Ile29_Leu30del) rs771943519
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) rs777201305
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000338.2(SLC12A1):c.1163delT (p.Phe388Serfs) rs779588655
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000495.4(COL4A5):c.4511-345A>G
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.4(COL4A5):c.4793C>T (p.Ser1598Phe)
NM_000495.4(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.4(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000642.2(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.3(BCKDHA):c.661_664delTACG (p.Tyr221Glnfs) rs796051938
NM_001025295.2(IFITM5):c.-14C>T rs587776916
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter)
NM_001142800.1(EYS):c.8793_8796delATCA (p.Gln2931Hisfs) rs1554163919
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001297.4(CNGB1):c.2893-7G>A rs749199721
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_003052.4(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_004183.3(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_005709.3(USH1C):c.1480+1G>C rs1060499916
NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) rs876659327
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_012120.2(CD2AP):c.682C>T (p.Arg228Trp) rs150851309
NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.3(NPHS2):c.871C>T (p.Arg291Trp) rs74315348
NM_015506.2(MMACHC):c.82-11_82-8delTTCT rs751236442
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_016239.3(MYO15A):c.8005dup (p.Thr2669Asnfs) rs1221876133
NM_018129.3(PNPO):c.686G>A (p.Arg229Gln) rs773450573
NM_022489.3(INF2):c.530G>A (p.Arg177His)
NM_022489.3(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_138413.3(HOGA1):c.123delT (p.Val42Terfs) rs1419840309
NM_138694.3(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_183050.3(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_206933.2(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.2(USH2A):c.9258+1G>A rs748810737

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