ClinVar Miner

Variants with conflicting interpretations studied for Dilated cardiomyopathy 1W

Coded as:
Minimum review status of the submission for Dilated cardiomyopathy 1W: Collection method of the submission for Dilated cardiomyopathy 1W:
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
981 29 0 7 26 0 2 35

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
Dilated cardiomyopathy 1W pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 1
uncertain significance 1 0 16 10
likely benign 0 16 0 7
benign 1 10 7 0

Condition to condition summary #

Total conditions: 1
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
Dilated cardiomyopathy 1W 981 29 0 7 26 0 2 35

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_014000.3(VCL):c.2427C>T (p.Ser809=) rs183739128 0.00019
NM_014000.3(VCL):c.81C>T (p.His27=) rs200733607 0.00018
NM_014000.3(VCL):c.1716T>G (p.Leu572=) rs189781480 0.00016
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_014000.3(VCL):c.378C>T (p.Phe126=) rs148966602 0.00012
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_014000.3(VCL):c.2802C>T (p.Ala934=) rs372381809 0.00007
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_014000.3(VCL):c.1607C>A (p.Pro536His) rs200624351 0.00004
NM_014000.3(VCL):c.2472C>G (p.Ile824Met) rs140381835 0.00004
NM_014000.3(VCL):c.2746-8C>T rs532645343 0.00004
NM_014000.3(VCL):c.1404G>A (p.Thr468=) rs772104870 0.00002
NM_014000.3(VCL):c.808T>C (p.Leu270=) rs727505339 0.00002
NM_014000.3(VCL):c.1543+8C>G rs886047218 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014000.3(VCL):c.3186G>A (p.Gln1062=) rs761534024 0.00001
NM_014000.3(VCL):c.36C>T (p.Ile12=) rs774195260 0.00001
NM_014000.3(VCL):c.1704G>A (p.Gln568=) rs1839959715
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014000.3(VCL):c.789T>C (p.Thr263=) rs538002543

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