ClinVar Miner

Variants with conflicting interpretations studied for CDH1-related condition

Minimum review status of the submission for CDH1-related condition: Collection method of the submission for CDH1-related condition:
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
16 26 1 29 17 0 0 41

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 conditions
CDH1-related condition uncertain significance likely benign benign
uncertain significance 1 4 2
likely benign 11 0 26
benign 1 3 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not provided 0 33 1 18 15 0 0 30
not specified 0 18 0 23 6 0 0 29
Breast and/or ovarian cancer 0 16 0 2 2 0 0 4
Hereditary cancer 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004360.5(CDH1):c.1296C>T (p.Asn432=) rs187862045 0.00019
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771 0.00015
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004360.5(CDH1):c.*8G>A rs201223411 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_004360.5(CDH1):c.699C>T (p.His233=) rs115494727 0.00005
NM_004360.5(CDH1):c.2280C>T (p.Gly760=) rs768547540 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.1173C>T (p.Val391=) rs148080550 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004360.5(CDH1):c.1689C>T (p.Ala563=) rs587780786 0.00003
NM_004360.5(CDH1):c.2331C>T (p.Asp777=) rs114265540 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala) rs587782061 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398 0.00001
NM_004360.5(CDH1):c.2091G>A (p.Lys697=) rs61747635 0.00001
NM_004360.5(CDH1):c.2322G>A (p.Arg774=) rs150734856 0.00001
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_004360.5(CDH1):c.879G>A (p.Val293=) rs778959722 0.00001
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.2440-12CTT[2] rs587782757

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