ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal recessive 1A

Coded as:
Minimum review status of the submission for Deafness, autosomal recessive 1A: Y axis collection method of the submission for Deafness, autosomal recessive 1A:
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
54 48 13 44 9 0 13 63

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 1A pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 13 30 9 3 1
likely pathogenic 38 0 6 1 1
uncertain significance 7 5 0 8 3
likely benign 0 0 0 0 1
benign 0 0 1 2 0

Condition to condition summary #

Total conditions: 36
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 104 24 12 27 0 0 6 37
not provided 0 28 12 25 3 0 4 36
Nonsyndromic hearing loss and deafness 0 21 11 24 0 0 4 32
Hearing loss 0 7 9 12 0 0 3 21
not specified 0 15 1 7 7 0 5 18
Deafness, autosomal dominant 3a 0 22 8 13 1 0 2 17
Hearing impairment 0 5 9 10 0 0 1 16
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 7 5 8 0 0 1 11
Nonsyndromic Hearing Loss, Dominant 0 5 0 1 5 0 3 8
Hystrix-like ichthyosis with deafness 0 5 0 0 5 0 3 7
Keratitis-Ichthyosis-Deafness Syndrome 0 4 0 0 5 0 3 7
Mutilating keratoderma 0 4 0 0 4 0 3 6
Nonsyndromic Hearing Loss, Recessive 0 8 0 0 4 0 0 4
Inborn genetic diseases 0 0 1 2 0 0 0 3
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 0 1 1 0 0 0 1 2
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 0 0 2 0 0 0 0 2
Bilateral sensorineural hearing impairment 0 0 1 0 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 0 0 0 0 1 1
Congenital omphalocele; Hearing impairment; Horseshoe kidney; Short palpebral fissure 0 0 1 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 0 0 1 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 0 1 1 0 0 0 0 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 9 0 0 0 1 0 0 0 1
GJB2-Related Disorders 0 0 1 0 0 0 0 1
Glioma 0 0 0 1 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 0 0 1 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 0 0 1 0 0 0 0 1
Hereditary myopathy with early respiratory failure 0 0 0 1 0 0 0 1
Keratitis-ichthyosis-deafness syndrome, autosomal dominant 0 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2J 0 0 0 1 0 0 0 1
Myopathy, early-onset, with fatal cardiomyopathy 0 0 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 0 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive sensorineural hearing impairment 0 1 0 0 1 0 0 1
Renal transitional cell carcinoma 0 0 0 1 0 0 0 1
Severe sensorineural hearing impairment 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 63
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HGVS dbSNP
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.-23G>T rs786204734
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.269dupT (p.Val91Serfs) rs730880338
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.290dupA (p.Tyr97Terfs) rs786204491
NM_004004.5(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.5(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) rs397516873
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.5(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.5(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.5(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.564_565delGA (p.Lys188Asnfs) rs770116143
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.5(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.5(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.5(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.5(GJB2):c.632_633delGT (p.Cys211Leufs) rs587783646
NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) rs587783647
NM_004004.5(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35dup (p.Val13Cysfs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.508_511dup (p.Ala171Glufs) rs773528125
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
Single allele

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