ClinVar Miner

Variants from Yale Center for Mendelian Genomics,Yale University with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from Yale Center for Mendelian Genomics,Yale University: Collection method of the submission from Yale Center for Mendelian Genomics,Yale 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
43 6 0 24 0 2 8 29

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
Yale Center for Mendelian Genomics,Yale University pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 6 0 0 0 0 0
likely pathogenic 19 0 4 4 2 1 1

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
OMIM 0 7 0 14 0 1 0 15
Invitae 0 3 0 4 0 0 4 8
Database of Curated Mutations (DoCM) 0 1 0 7 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 4 0 0 1 5
GeneDx 0 5 0 4 0 0 1 5
GeneReviews 0 1 0 5 0 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 1 0 2 0 0 3 5
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 4 0 0 0 4
Counsyl 0 1 0 4 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 3 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 3 0 0 0 3
Ambry Genetics 0 4 0 1 0 0 1 2
Fulgent Genetics 0 2 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
PreventionGenetics 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 1 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Yale Center for Mendelian Genomics,Yale University 77 0 0 1 0 0 0 1
Thoracic Oncology Service,Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology,Dartmouth-Hitchcock Medical Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000019.3(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000030.2(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.2(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.2(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000338.2(SLC12A1):c.1163delT (p.Phe388Serfs) rs779588655
NM_000687.3(AHCY):c.266C>T (p.Ala89Val) rs755222515
NM_000687.3(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_001166686.1(PFKM):c.450+1G>A rs202143236
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002470.3(MYH3):c.875C>G (p.Ser292Cys) rs139480342
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_003052.4(SLC34A1):c.398C>T (p.Ala133Val) rs148976897
NM_003052.4(SLC34A1):c.644+1G>A rs201304511
NM_004252.4(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004985.4(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.4(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) rs104893726
NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs) rs80356708
NM_018297.3(NGLY1):c.1533_1536delTCAA (p.Asn511Lysfs) rs765211108
NM_080916.2(DGUOK):c.137A>G (p.Asn46Ser) rs763615602
NM_176795.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233

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