ClinVar Miner

Variants with conflicting interpretations studied for NEB-related disorder

Minimum review status of the submission for NEB-related disorder: Collection method of the submission for NEB-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
90 59 0 22 53 0 2 69

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
NEB-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 6 0
likely benign 0 0 43 0 6
benign 0 0 4 11 0

Condition to condition summary #

Total conditions: 4
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
not provided 0 55 0 17 46 0 1 61
not specified 0 23 0 8 20 0 0 27
NEB-related disorder 217 0 0 0 0 0 1 1
See cases 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00493
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357 0.00379
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00314
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00308
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00291
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_001164508.2(NEB):c.19944+3G>A rs115142419 0.00250
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00198
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.18579+6T>C rs116189169 0.00163
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00129
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00117
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00114
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00096
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00078
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316 0.00074
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00070
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00068
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00060
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00055
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00050
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00046
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00041
NM_001164508.2(NEB):c.4299+7A>G rs373926259 0.00038
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr) rs369215974 0.00012
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro) rs768813228 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00007
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001164508.2(NEB):c.15602A>G (p.Asp5201Gly) rs1057521567
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro) rs201072996
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001164508.2(NEB):c.23649+10_23649+11del rs772001300
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.5971-6dup rs551520922

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