ClinVar Miner

Variants from ClinGen CDH1 Variant Curation Expert Panel with conflicting interpretations

Location: United States — Primary collection method: curation
Minimum review status of the submission from ClinGen CDH1 Variant Curation Expert Panel: Collection method of the submission from ClinGen CDH1 Variant Curation Expert Panel:
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
6 15 1 25 16 0 5 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
ClinGen CDH1 Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 4 0
likely benign 0 0 0 0 1
benign 3 1 12 15 1

Submitter to submitter summary #

Total submitters: 28
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
Ambry Genetics 0 19 0 11 8 0 0 19
GeneDx 0 13 0 10 6 0 1 17
Color 0 11 0 13 3 0 0 16
Integrated Genetics/Laboratory Corporation of America 0 6 0 10 4 0 0 14
Invitae 0 28 0 7 2 0 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 5 0 6 2 0 0 8
Counsyl 0 7 0 4 3 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 0 0 7 0 0 0 7
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 2 3 0 1 6
OMIM 0 1 0 1 0 0 4 5
PreventionGenetics 0 3 0 3 1 0 0 4
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 2 0 0 3
Mendelics 0 3 0 2 1 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1 1 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 2 0 0 2
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 0 1
Pathway Genomics 0 5 0 1 0 0 0 1
GeneKor MSA 0 1 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
True Health Diagnostics 0 2 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_004360.3(CDH1):c.2430delT (p.Phe810Leufs) rs786203752
NM_004360.3(CDH1):c.382delC (p.His128Ilefs) rs1555514492
NM_004360.5(CDH1):c.1008G>A (p.Glu336=) rs267606712
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1138-3C>T rs36103202
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775
NM_004360.5(CDH1):c.286A>G (p.Ile96Val) rs749306433
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590

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