ClinVar Miner

Variants with conflicting interpretations studied for Nonsyndromic Hearing Loss, Mixed

Coded as:
Minimum review status of the submission for Nonsyndromic Hearing Loss, Mixed: Collection method of the submission for Nonsyndromic Hearing Loss, Mixed:
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 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
30 10 0 4 10 0 0 14

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
Nonsyndromic Hearing Loss, Mixed likely benign benign
uncertain significance 4 9
likely benign 0 4

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 1 0 4 10 0 0 14
not specified 0 0 0 3 5 0 0 8
GSDME-related condition 0 0 0 0 1 0 0 1
HGF-related condition 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_000601.6(HGF):c.1765G>A (p.Val589Ile) rs538415452 0.00003
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_002241.5(KCNJ10):c.*1970GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[23] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[24] rs56656397
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.402+12del rs555848272

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