ClinVar Miner

Variants from Center for Genetic Medicine Research,Children's National Medical Center with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Center for Genetic Medicine Research,Children's National Medical Center: Collection method of the submission from Center for Genetic Medicine Research,Children's National Medical Center:
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
44 8 0 10 6 0 9 22

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 Genetic Medicine Research,Children's National Medical Center pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 10 0 5 0 0
uncertain significance 4 1 0 5 4

Submitter to submitter summary #

Total submitters: 24
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 5 0 8 4 0 3 15
GeneDx 0 7 0 8 4 0 2 14
Invitae 0 8 0 7 4 0 2 13
Genetic Services Laboratory, University of Chicago 0 4 0 4 2 0 0 6
OMIM 0 0 0 4 0 0 1 5
Athena Diagnostics Inc 0 2 0 2 2 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 1 0 0 2 3
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 1 3
GeneReviews 0 0 0 2 0 0 1 3
Fulgent Genetics,Fulgent Genetics 0 0 0 3 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 3 0 0 3
Counsyl 0 2 0 1 0 0 1 2
Mendelics 0 1 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001234.5(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_004006.2(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369

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