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

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2021-05-29 2021-05-01 2021-03-28 2021-03-02 2021-01-31 2021-01-02 2019-12-02 2019-11-05 2019-10-01 2019-09-02 2019-07-31 2019-07-01 2019-06-03 2019-05-03 2019-04-03 2019-03-05 2019-02-04 2018-12-31 2018-12-04 2018-10-29 2018-10-01 2018-09-03 2018-07-30 2018-07-03 2018-06-05 2018-04-30 2018-04-03 2018-02-27 2018-01-29 2018-01-01 2017-12-04 2017-10-30 2017-10-01 2017-09-04 2017-07-31 2017-07-03 2017-05-29 2017-05-01 2017-04-03 2017-02-27 2017-01-30 2017-01-04 2016-11-28 2016-10-31 2016-10-03 2016-08-30 2016-08-01 2016-07-04 2016-05-30 2016-05-02 2016-04-11 2016-03-01 2016-02-02 2016-01-04 2015-11-30 2015-11-02 2015-09-14 2015-08-24 2015-08-03 2015-06-29 2015-06-02 2015-05-04 2015-03-24 2015-03-04 2015-02-02 2015-01-05 2014-12-01 2014-11-02 2014-09-22 2014-09-01 2014-08-07 2014-07-01 2014-06-02 2014-04-28 2014-04-01 2014-03-06 2014-02-11 2013-12-30 2013-12-03 2013-11-06 2013-09-30 2013-09-12 2013-08-08 2013-05-05 2013-04-08 2013-01-24 2012-11-16

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
953	100	9	43	14	1	32	96

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	benign	risk factor
	pathogenic	9	23	9	0	0	1
	likely pathogenic	20	0	15	0	0	0
	uncertain significance	6	3	0	10	5	0
	likely benign	0	0	1	0	0	0

Submitter to submitter summary #

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	7	7	0	8	22
Illumina Clinical Services Laboratory,Illumina	0	14	0	1	8	0	5	14
Counsyl	0	6	0	6	0	0	3	9
OMIM	0	35	0	3	0	1	3	7
GeneReviews	0	6	7	0	0	0	0	7
Research and Development, ARUP Laboratories	0	6	3	2	0	0	0	5
Institute of Human Genetics, University of Leipzig Medical Center	0	7	0	1	0	0	3	4
Mendelics	0	8	0	1	1	0	1	3
Molecular Biology Laboratory, Fundació Puigvert	0	4	0	2	0	0	1	3
Baylor Genetics	0	16	0	1	0	0	1	2
Center for Human Genetics, Inc,Center for Human Genetics, Inc	0	1	0	2	0	0	0	2
Molecular Genetics Laboratory,Institute for Ophthalmic Research	0	0	0	2	0	0	0	2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	0	0	0	1	0	0	1	2
Natera, Inc.	0	5	0	0	1	0	1	2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	2	0	0	0	2
Centre for Mendelian Genomics,University Medical Centre Ljubljana	0	7	0	0	0	0	2	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	3	0	2	0	0	0	2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	0	4	0	2	0	0	0	2
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	0	0	0	0	0	2	2
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	1	0	1	0	0	0	1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	0	2	0	1	0	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	0	2	0	0	0	0	1	1
Medical Genomics Laboratory,Department of Genetics UAB	0	0	0	1	0	0	0	1
Institute of Human Genetics,Cologne University	0	1	0	1	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	0	0	0	1	0	0	0	1
Integrated Genetics/Laboratory Corporation of America	0	6	0	1	0	0	0	1
Institute of Human Genetics, Klinikum rechts der Isar	0	4	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	0	1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg	0	1	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	0	1	0	0	0	1
Albrecht-Kossel-Institute,Medical University Rostock	0	0	0	0	0	0	1	1
Medical Genetics, University of Parma	0	0	0	0	0	0	1	1
Color Health, Inc	0	1	0	0	0	0	1	1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	4	0	0	0	0	1	1
Neurogenetics Laboratory - MEYER,AOU Meyer	0	0	0	1	0	0	0	1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University	0	0	0	1	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	1	0	0	0	0	1	1
Sharon lab,Hadassah-Hebrew University Medical Center	0	0	0	1	0	0	0	1
Leiden Open Variation Database	0	1	0	0	0	0	1	1
Broad Institute Rare Disease Group, Broad Institute	0	3	0	0	0	0	1	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	2	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic,University of Iowa	0	1	0	0	1	0	0	1
Sydney Genome Diagnostics,Children's Hospital Westmead	0	0	0	1	0	0	0	1
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP
NM_000035.4(ALDOB):c.865del (p.Leu289fs)	rs864309533
NM_000059.3(BRCA2):c.3739del (p.Ile1247fs)	rs886040494
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	rs80359550
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)	rs144432231
NM_000071.2(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532
NM_000091.4(COL4A3):c.765G>A (p.Thr255=)	rs869025328
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)	rs1380878336
NM_000092.5(COL4A4):c.594+1G>A	rs1553690565
NM_000135.4(FANCA):c.2778+1G>A	rs140180549
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000142.5(FGFR3):c.1138G>A	rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845
NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg)	rs1325525794
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	rs727503329
NM_000267.3(NF1):c.15del (p.Arg5fs)	rs1057516197
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr)	rs199474728
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg)	rs1135402865
NM_000283.3(PDE6B):c.1832+1G>T	rs370758397
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	rs1603288832
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)	rs886039873
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter)	rs151093663
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	rs1555445585
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	rs1555459084
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs)	rs1168074679
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=)	rs75737363
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser)	rs117620008
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter)	rs368697251
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	rs374417889
NM_001081.4(CUBN):c.6125-2A>G	rs75386064
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033
NM_001146289.1(P3H1):c.570_571del (p.Gly191fs)	rs1553143741
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu)	rs201077964
NM_001710.5(CFB):c.1407C>G (p.Ile469Met)	rs201798809
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)	rs150672907
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys)	rs80338826
NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg)	rs368440234
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	rs775283269
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	rs148147581
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)	rs121434391
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys)	rs386833961
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs)	rs80357906
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)	rs545551160
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)	rs150851309
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381
NM_014140.4(SMARCAL1):c.1147+8G>A	rs759562755
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
NM_014140.4(SMARCAL1):c.2427+1G>A	rs1559138455
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter)	rs12568913
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	rs145473779
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)	rs752029771
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	rs772429581
NM_022489.4(INF2):c.*1+1G>C	rs758452999
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)	rs201534539
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)	rs1037084691
NM_024426.6(WT1):c.512G>T (p.Gly171Val)	rs1554946480
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)	rs1556420349
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)	rs104886221
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	rs104886270
NM_033380.3(COL4A5):c.4529-345A>G	rs1569508899
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe)	rs1569509257
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)	rs1419840309
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)	rs1554223332
NM_144696.6(AXDND1):c.3032-1907G>A	rs74315348
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr)	rs74315448
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	rs398124575
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)	rs33939927
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)	rs149253719