ClinVar Miner

Variants from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University: Collection method of the submission from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University:
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
60 44 0 16 5 1 11 33

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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 10 7 1 1 0
likely pathogenic 3 0 0 0 0 1
uncertain significance 2 2 0 3 3 0
likely benign 0 0 1 0 3 0

Submitter to submitter summary #

Total submitters: 29
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 7 0 6 1 0 4 11
Invitae 0 7 0 3 3 0 3 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 6 0 4 1 0 1 6
OMIM 0 38 0 1 0 1 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 0 1 0 2 3
Ambry Genetics 0 4 0 0 1 0 2 3
Fulgent Genetics 0 1 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 1 0 1 2
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 0 0 2 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
Athena Diagnostics Inc 0 1 0 0 1 0 0 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 1 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
PreventionGenetics 0 0 0 1 0 0 0 1
Counsyl 0 3 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 1 0 0 0 1
GeneReviews 0 6 0 1 0 0 0 1
Blueprint Genetics, 0 0 0 0 1 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 0 0 1
Color 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000445.4(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.4(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_001007468.2(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) rs863223792
NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys) rs869312903
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_002140.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_003036.3(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.3(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.3(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.5124_5125del (p.Arg1709Hisfs) rs886043506
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_006892.3(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359
NM_016111.3(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016111.3(TELO2):c.1826G>A (p.Arg609His) rs754162070
NM_016111.3(TELO2):c.2159A>T (p.Asp720Val) rs878853271
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_152415.2(VPS37A):c.700C>A (p.Leu234Ile) rs150912414
NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294

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