ClinVar Miner

Variants with conflicting interpretations studied for Hearing impairment

Coded as:
Minimum review status of the submission for Hearing impairment: Y axis collection method of the submission for Hearing impairment:
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
19 11 10 11 1 0 4 20

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
Hearing impairment pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 10 11 2 1 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 1 1

Condition to condition summary #

Total conditions: 15
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
Deafness, autosomal recessive 1A 0 5 9 10 0 0 1 16
not provided 0 19 0 6 1 0 0 7
Deafness, autosomal dominant 3a 0 6 0 5 0 0 0 5
Rare genetic deafness 0 16 0 5 0 0 0 5
Nonsyndromic hearing loss and deafness 0 4 0 2 0 0 1 3
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 8 0 2 0 0 0 2
not specified 0 3 0 0 1 0 1 2
Deafness, autosomal recessive 9 0 0 1 0 0 0 0 1
Hearing impairment 45 4 0 1 0 0 0 1
Hystrix-like ichthyosis with deafness 0 0 0 0 0 0 1 1
Keratitis-Ichthyosis-Deafness Syndrome 0 0 0 0 0 0 1 1
Mutilating keratoderma 0 0 0 0 0 0 1 1
Nonsyndromic Hearing Loss, Dominant 0 0 0 0 0 0 1 1
Retinitis pigmentosa 0 1 0 0 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.908G>A (p.Arg303His) rs371777049

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