ClinVar Miner

Variants with conflicting interpretations studied for Elliptocytosis

Coded as:
Minimum review status of the submission for Elliptocytosis: Y axis collection method of the submission for Elliptocytosis:
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
0 207 0 98 27 0 5 116

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
Elliptocytosis pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 0 0 11 5
likely benign 1 4 11 0 98

Condition to condition summary #

Total conditions: 5
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 7 0 82 9 0 2 89
not provided 0 4 0 30 18 0 0 44
Hemolytic anemia 0 0 0 0 0 0 3 3
Congenital hemolytic anemia 0 0 0 0 0 0 1 1
Elliptocytosis 2 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 116
Download table as spreadsheet
HGVS dbSNP
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498
NM_001355436.2(SPTB):c.300+7T>C rs229581
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806
NM_001355436.2(SPTB):c.4003-12T>C rs78707026
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4564-4G>A rs4902312
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592
NM_001355436.2(SPTB):c.4973+4C>T rs758611621
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252
NM_001355436.2(SPTB):c.5554-3C>T rs190765118
NM_001355436.2(SPTB):c.5799-7C>T rs7142689
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411
NM_001355436.2(SPTB):c.6023-8C>T rs56181906
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863
NM_001355436.2(SPTB):c.6269+13C>T rs11622977
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119
NM_001355436.2(SPTB):c.876+5A>G rs230703
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563
NM_003126.4(SPTA1):c.126C>T (p.Val42=) rs435080
NM_003126.4(SPTA1):c.1350+14A>T rs703116
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) rs34446973
NM_003126.4(SPTA1):c.1600-10A>G rs148156245
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) rs12090314
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.4(SPTA1):c.24+3A>G rs2564858
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) rs7547313
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) rs2518493
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) rs16840450
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691
NM_003126.4(SPTA1):c.3037-14T>C rs142102801
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059
NM_003126.4(SPTA1):c.3477+15C>T rs369904982
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965
NM_003126.4(SPTA1):c.3570-12C>T rs2246434
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405
NM_003126.4(SPTA1):c.4195-12G>A rs6702040
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) rs16840544
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) rs3738791
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=) rs368542665
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) rs75931146
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.4(SPTA1):c.6531-12C>T rs28525570
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) rs2251969
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424
NM_003126.4(SPTA1):c.813-7A>T rs325995
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.867T>C (p.Ser289=) rs12083637
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996
NM_003126.4(SPTA1):c.958-10C>A rs12085628

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