ClinVar Miner

Variants with conflicting interpretations studied for Congenital contractural arachnodactyly

Coded as:
Minimum review status of the submission for Congenital contractural arachnodactyly: Y axis collection method of the submission for Congenital contractural arachnodactyly:
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
273 99 0 86 54 0 4 124

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
Congenital contractural arachnodactyly pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 3 0 23 8
likely benign 0 29 0 70
benign 0 16 66 0

Condition to condition summary #

Total conditions: 10
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 39 0 75 31 0 0 100
Cardiovascular phenotype 0 49 0 53 16 0 1 68
Congenital contractural arachnodactyly 403 35 0 50 8 0 0 58
not provided 0 63 0 22 12 0 1 34
Connective tissue disorder 0 10 0 14 6 0 0 20
Macular degeneration, early-onset 0 1 0 0 0 0 2 2
Thoracic aortic aneurysm and aortic dissection 0 2 0 0 2 0 0 2
Brain Aneurysm 0 0 0 0 1 0 0 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 6 0 0 1 0 0 1
Loeys-Dietz syndrome 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 124
Download table as spreadsheet
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.1078+12A>C rs769211487
NM_001999.3(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.3(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.3(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.3(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.3(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.3(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.3(FBN2):c.1466-5C>T rs28763952
NM_001999.3(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.3(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.3(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.3(FBN2):c.1850-9C>T rs199937209
NM_001999.3(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.3(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.3(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.3(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.3(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.3(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.3(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.3(FBN2):c.2555-7A>G rs28763949
NM_001999.3(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.3(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.3(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.3(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.3(FBN2):c.287_289delACT (p.Tyr96del) rs555068280
NM_001999.3(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.3(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.3(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.3(FBN2):c.2990-14C>T rs377500777
NM_001999.3(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.3(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.3(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.3(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.3(FBN2):c.3217+13G>A rs572013507
NM_001999.3(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.3(FBN2):c.3273T>C (p.Asn1091=) rs116741030
NM_001999.3(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.3405G>A (p.Pro1135=) rs185809581
NM_001999.3(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.3(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.3(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.3(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.3(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.3(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_001999.3(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.3(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.3(FBN2):c.3848-10G>A rs140017238
NM_001999.3(FBN2):c.3848-10G>T rs140017238
NM_001999.3(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.3(FBN2):c.4100-9G>T rs377002313
NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.3(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.3(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.3(FBN2):c.4222+12A>G rs79445561
NM_001999.3(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.3(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.3(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.3(FBN2):c.4515A>G (p.Thr1505=) rs751938197
NM_001999.3(FBN2):c.4595-11G>C rs199640787
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.3(FBN2):c.4718-13T>C rs10044959
NM_001999.3(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.3(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.3(FBN2):c.5353+10C>T rs113589974
NM_001999.3(FBN2):c.5353+19C>T rs183524866
NM_001999.3(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.3(FBN2):c.5487C>T (p.Gly1829=) rs375136629
NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.3(FBN2):c.5674+7A>G rs367877964
NM_001999.3(FBN2):c.5675-9C>T rs27713
NM_001999.3(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.3(FBN2):c.5917+9T>G rs371439173
NM_001999.3(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.3(FBN2):c.6063C>T (p.Val2021=) rs149380208
NM_001999.3(FBN2):c.6167-4G>A rs370981323
NM_001999.3(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.3(FBN2):c.6285A>G (p.Arg2095=) rs28763933
NM_001999.3(FBN2):c.629-9A>G rs56025995
NM_001999.3(FBN2):c.6511+5G>A rs200608284
NM_001999.3(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.3(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.3(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.3(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.3(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.3(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.3(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.3(FBN2):c.7012+6C>T rs749376421
NM_001999.3(FBN2):c.7012+7G>A rs199735209
NM_001999.3(FBN2):c.7013-5T>C rs28763927
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.3(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.3(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.3(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.3(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.3(FBN2):c.7471+6G>A rs200998513
NM_001999.3(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.3(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388
NM_001999.3(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.3(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.3(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.3(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.3(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.3(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.3(FBN2):c.81C>T (p.Ala27=) rs746484599
NM_001999.3(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.3(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.3(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.3(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.3(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.3(FBN2):c.8364+7A>T rs185052980
NM_001999.3(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.3(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203
NM_001999.3(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.3(FBN2):c.953-8T>G rs201818403
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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