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 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
61 100 0 50 29 0 3 72

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 8 0 0 0
likely pathogenic 25 0 0 0 0
likely benign 0 0 17 0 2
benign 3 1 12 15 0

Submitter to submitter summary #

Total submitters: 14
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
Invitae 0 107 0 29 10 0 0 39
Counsyl 0 14 0 8 13 0 0 21
Illumina Clinical Services Laboratory,Illumina 0 27 0 10 3 0 0 13
Mendelics 0 6 0 3 7 0 0 10
OMIM 0 4 0 3 0 0 3 6
Integrated Genetics/Laboratory Corporation of America 0 2 0 5 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 2 0 0 3
CSER _CC_NCGL, University of Washington 0 1 0 0 2 0 0 2
Pathway Genomics 0 5 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP
NC_000016.10:g.68835549T>A rs181705992
NM_004360.5(CDH1):c.*54C>T rs1801026
NM_004360.5(CDH1):c.-71C>G rs34033771
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.1118C>T (p.Pro373Leu) rs587782359
NM_004360.5(CDH1):c.1137+1G>A rs876660771
NM_004360.5(CDH1):c.1137+2T>C rs786202817
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.1170del (p.Asn390fs) rs1567507724
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.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs) rs1567508939
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala) rs876661065
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter) rs876659716
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.188G>A (p.Arg63Gln) rs587780117
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs) rs1555516896
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.202del (p.Tyr68fs) rs786202151
NM_004360.5(CDH1):c.2053G>A (p.Val685Met) rs550612843
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter) rs149127230
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter) rs786202785
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2324del (p.Gly775fs) rs1060501248
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2399G>A (p.Arg800His) rs370345996
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.261del (p.Arg87fs) rs1555514429
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.304G>A (p.Ala102Thr) rs368492235
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup) rs587782476
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup) rs587782476
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654
NM_004360.5(CDH1):c.376_382dup (p.His128fs) rs1567501500
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.387+5G>A rs113055163
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter) rs1567504575
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter) rs1555515215
NM_004360.5(CDH1):c.48+5C>T rs77312180
NM_004360.5(CDH1):c.49-3C>T rs587782366
NM_004360.5(CDH1):c.49-9C>A rs1555509752
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser) rs786201212
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.696_697del (p.His233fs) rs1060501214
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter) rs786201058
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter) rs876659503
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484

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