ClinVar Miner

Variants with conflicting interpretations studied for Ehlers-Danlos syndrome, type vii, autosomal recessive

Coded as:
Minimum review status of the submission for Ehlers-Danlos syndrome, type vii, autosomal recessive: Y axis collection method of the submission for Ehlers-Danlos syndrome, type vii, autosomal recessive:
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
158 39 0 26 25 0 0 43

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
Ehlers-Danlos syndrome, type vii, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 19 11
likely benign 0 0 7 0 12
benign 0 0 11 22 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not specified 0 15 0 25 16 0 0 34
Ehlers-Danlos syndrome, type vii, autosomal recessive 195 20 0 10 15 0 0 25
not provided 0 25 0 2 8 0 0 9

All variants with conflicting interpretations #

Total variants: 43
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HGVS dbSNP
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.5(ADAMTS2):c.47_49TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078

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