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 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
184 15 1 10 0 2 6 16

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 drug response
pathogenic 1 5 3 1 1
likely pathogenic 6 0 2 1 1

Submitter to submitter summary #

Total submitters: 17
Download table as spreadsheet
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
GeneDx 0 4 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 0 3 3
OMIM 0 8 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 2 2
Invitae 0 3 0 1 0 0 1 2
Natera, Inc. 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3 0 1 0 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 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 214 0 0 1 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 0 0 1 0 0 0 1
University Health Network,Princess Margaret Cancer Centre 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_001369.2(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) rs1305797678
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_032504.1(UNC80):c.8058+2T>G rs1575179679
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602

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