Variants with conflicting interpretations studied for Autosomal recessive nonsyndromic hearing loss 1A

Minimum review status of the submission for Autosomal recessive nonsyndromic hearing loss 1A:		Collection method of the submission for Autosomal recessive nonsyndromic hearing loss 1A:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
174	71	0	53	11	0	26	84

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
Autosomal recessive nonsyndromic hearing loss 1A		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	48	12	0	0
	likely pathogenic	48	0	19	0	0
	uncertain significance	12	19	0	9	3
	likely benign	0	0	9	0	5
	benign	0	0	3	5	0

Condition to condition summary #

Total conditions: 1

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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
Autosomal recessive nonsyndromic hearing loss 1A	174	71	0	53	11	0	26	84

All variants with conflicting interpretations #

Total variants: 84

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-15C>T	rs72561725	0.01589
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186	0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_004004.6(GJB2):c.-45C>A	rs397516868	0.00245
NM_004004.6(GJB2):c.380G>A (p.Arg127His)	rs111033196	0.00143
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00140
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_004004.6(GJB2):c.-23G>T	rs786204734	0.00090
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	rs111033222	0.00059
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_004004.6(GJB2):c.*1C>T	rs111033327	0.00045
NM_004004.6(GJB2):c.499G>A (p.Val167Met)	rs111033360	0.00031
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554	0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	rs145216882	0.00015
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	rs376898963	0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00015
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645	0.00014
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397	0.00011
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747	0.00011
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949	0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	rs104894407	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	rs533231493	0.00007
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217	0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	rs397516878	0.00003
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053	0.00002
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	rs570552952	0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289	0.00002
NM_004004.6(GJB2):c.-22-1G>A	rs551625098	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	rs1326514987	0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309	0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	rs111033451	0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	rs111033361	0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	rs781534323	0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	rs397516873	0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	rs80338946	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	rs786204690	0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401	0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	rs774518779	0.00001
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	rs770330002	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	rs1378679640	0.00001
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	rs786204597	0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NC_000013.11:g.20193020G>A	rs886037626
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	rs111033296
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	rs370696868
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	rs104894395
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)	rs886037625
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)	rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	rs727503066
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	rs397516875
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)	rs111033420
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)	rs776335807
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	rs80338941
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)	rs111033335
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.632_633del (p.Cys211fs)	rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	rs111033190

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