ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal recessive 2; Usher syndrome, type 1

Coded as:
Minimum review status of the submission for Deafness, autosomal recessive 2; Usher syndrome, type 1: Y axis collection method of the submission for Deafness, autosomal recessive 2; Usher syndrome, type 1:
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
120 69 0 29 10 0 17 54

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 2; Usher syndrome, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 0 0 0
likely pathogenic 23 0 3 0 1
uncertain significance 2 13 0 9 1
likely benign 0 0 0 0 1

Condition to condition summary #

Total conditions: 10
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
Usher syndrome, type 1 0 21 0 12 0 0 10 22
not specified 0 48 0 1 10 0 2 13
not provided 0 14 0 10 0 0 2 12
Deafness, autosomal recessive 2 0 1 0 3 0 0 2 5
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 6 0 4 0 0 0 4
MYO7A-Related Disorders 0 2 0 4 0 0 0 4
Usher syndrome 0 2 0 1 0 0 2 3
Inborn genetic diseases 0 1 0 1 0 0 0 1
Nonsyndromic Hearing Loss, Dominant 0 6 0 0 0 0 1 1
Usher syndrome, type 1B 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.1200+1G>A rs397516283
NM_000260.3(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.3(MYO7A):c.1403_1404insGCA (p.Arg467_His468insGln) rs111033219
NM_000260.3(MYO7A):c.1555-8C>G rs1057517774
NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.3(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.3(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.3(MYO7A):c.2187+1G>A rs111033290
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.285+1G>C rs782661097
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.3(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.3(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.3(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.3(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.3(MYO7A):c.4153-10C>G rs397516306
NM_000260.3(MYO7A):c.4153-11C>T rs727503330
NM_000260.3(MYO7A):c.4153-8C>G rs143216377
NM_000260.3(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.3(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.3(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.3(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.3(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.3(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.3(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.3(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.3(MYO7A):c.593-4G>A rs876657534
NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.3(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.3(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.3(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.3(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.3(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.3(MYO7A):c.6439-2A>G rs397516330
NM_000260.3(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.3(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.3(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_001127180.1(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_001127180.1(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886

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