ClinVar Miner

Variants in gene VCL with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
1064 134 0 48 49 0 3 83

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 0 1
likely pathogenic 0 0 1 0 0
uncertain significance 1 1 0 38 15
likely benign 0 0 38 0 48
benign 1 0 15 48 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_014000.3(VCL):c.2950-22C>G rs71579378 0.00753
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.1177-15C>T rs115083446 0.00414
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.2023-20A>G rs143756084 0.00247
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.1353-19G>A rs145537824 0.00193
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
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.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys) rs139559937 0.00026
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_014000.3(VCL):c.1744-19T>G rs201488697 0.00022
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_014000.3(VCL):c.1788A>C (p.Ser596=) rs199582103 0.00021
NM_014000.3(VCL):c.2427C>T (p.Ser809=) rs183739128 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014000.3(VCL):c.1716T>G (p.Leu572=) rs189781480 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_014000.3(VCL):c.1403C>T (p.Thr468Met) rs147957747 0.00013
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.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2142C>T (p.Asp714=) rs373790383 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_014000.3(VCL):c.2802C>T (p.Ala934=) rs372381809 0.00007
NM_014000.3(VCL):c.2349G>A (p.Val783=) rs558040780 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014000.3(VCL):c.2748G>A (p.Pro916=) rs761794669 0.00006
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_014000.3(VCL):c.528C>T (p.Asp176=) rs746453891 0.00005
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys) rs781079975 0.00004
NM_014000.3(VCL):c.1607C>A (p.Pro536His) rs200624351 0.00004
NM_014000.3(VCL):c.2265T>C (p.Ser755=) rs147887754 0.00004
NM_014000.3(VCL):c.2472C>G (p.Ile824Met) rs140381835 0.00004
NM_014000.3(VCL):c.2652G>A (p.Glu884=) rs371187988 0.00004
NM_014000.3(VCL):c.2746-8C>T rs532645343 0.00004
NM_014000.3(VCL):c.1164C>T (p.Ile388=) rs370852950 0.00003
NM_014000.3(VCL):c.1404G>A (p.Thr468=) rs772104870 0.00002
NM_014000.3(VCL):c.1756C>T (p.Arg586Trp) rs770778046 0.00002
NM_014000.3(VCL):c.2746-14C>T rs367598954 0.00002
NM_014000.3(VCL):c.783+5G>A rs767694507 0.00002
NM_014000.3(VCL):c.808T>C (p.Leu270=) rs727505339 0.00002
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser) rs763235691 0.00001
NM_014000.3(VCL):c.1543+8C>G rs886047218 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 0.00001
NM_014000.3(VCL):c.3186G>A (p.Gln1062=) rs761534024 0.00001
NM_014000.3(VCL):c.3259-5T>C rs1057523095 0.00001
NM_014000.3(VCL):c.424T>C (p.Leu142=) rs762497815 0.00001
NM_014000.3(VCL):c.874+13T>C rs777617736 0.00001
NM_014000.3(VCL):c.875-5T>C rs1225977039 0.00001
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_014000.3(VCL):c.1294C>T (p.Leu432=) rs144146254
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.3(VCL):c.168+9G>T rs997516030
NM_014000.3(VCL):c.1704G>A (p.Gln568=) rs1839959715
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2529G>A (p.Pro843=) rs1591714816
NM_014000.3(VCL):c.2560C>T (p.Leu854=) rs551463686
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014000.3(VCL):c.789T>C (p.Thr263=) rs538002543

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