ClinVar Miner

Variants from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues: Collection method of the submission from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues:
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
183 55 1 16 14 0 19 44

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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 15 6 1 0
likely pathogenic 1 0 8 0 0
uncertain significance 5 1 0 13 4

Submitter to submitter summary #

Total submitters: 30
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 32 0 5 11 0 8 24
Ambry Genetics 0 20 0 4 5 0 2 11
GeneDx 0 53 0 3 1 0 5 9
Integrated Genetics/Laboratory Corporation of America 0 8 0 0 5 0 1 6
Blueprint Genetics, 0 4 0 1 2 0 2 5
Color 0 4 0 0 5 0 0 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 0 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 0 4 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 2 1 0 1 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 6 0 3 1 0 0 4
OMIM 0 8 0 0 0 0 3 3
CSER_CC_NCGL; University of Washington Medical Center 0 7 0 0 0 0 3 3
Athena Diagnostics Inc 0 1 0 0 1 0 0 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 1 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
GeneReviews 0 1 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 1 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg)
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.6(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001743.5(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001854.3(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_003620.3(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406
NM_015339.4(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_017636.3(TRPM4):c.1459_1494del36 (p.Lys487_Leu498del) rs878855029
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.611+1G>A rs794728843
Single allele

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