ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal dominant 3a

Coded as:
Minimum review status of the submission for Deafness, autosomal dominant 3a: Y axis collection method of the submission for Deafness, autosomal dominant 3a:
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
6 16 4 13 1 0 3 18

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 dominant 3a pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 1 0 1 0
likely pathogenic 11 0 1 0 0
likely benign 0 0 0 0 1
benign 1 1 1 1 0

Condition to condition summary #

Total conditions: 13
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 16 4 6 1 0 1 11
not provided 0 11 0 7 0 0 1 8
Hearing impairment 0 6 0 5 0 0 0 5
Hearing loss 0 6 0 4 1 0 0 5
Rare genetic deafness 0 16 0 4 0 0 1 5
not specified 0 1 0 3 0 0 1 4
Hystrix-like ichthyosis with deafness 0 1 0 1 0 0 1 2
Keratitis-Ichthyosis-Deafness Syndrome 0 1 0 1 0 0 1 2
Mutilating keratoderma 0 1 0 1 0 0 1 2
Nonsyndromic Hearing Loss, Dominant 0 1 0 1 0 0 1 2
Deafness, autosomal dominant 3a 32 7 0 1 0 0 0 1
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 3 0 1 0 0 0 1
Nonsyndromic hearing loss and deafness 0 5 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
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.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
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.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
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.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647

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