ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal recessive 9

Coded as:
Minimum review status of the submission for Deafness, autosomal recessive 9: Y axis collection method of the submission for Deafness, autosomal recessive 9:
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
80 12 13 21 4 5 11 48

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
Deafness, autosomal recessive 9 pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 13 5 5 3 1 2
likely pathogenic 2 0 0 0 0 0
uncertain significance 2 3 0 2 1 0
likely benign 1 0 0 0 0 0
benign 0 0 2 16 0 0
association 3 3 0 0 0 0

Condition to condition summary #

Total conditions: 8
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 18 1 7 3 0 5 16
Deafness, autosomal recessive 9 125 2 6 2 0 2 3 13
not provided 0 14 3 4 2 1 4 13
Rare genetic deafness 0 1 4 2 0 5 1 11
Nonsyndromic Hearing Loss, Recessive 0 3 0 9 1 0 0 10
Auditory neuropathy, autosomal recessive, 1 0 0 3 0 0 1 1 4
Hearing impairment 0 0 1 0 0 0 0 1
Nonsyndromic hearing loss and deafness 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135
NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595
NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.5407_5409GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779

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