ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome, type 1

Coded as:
Minimum review status of the submission for Usher syndrome, type 1: Y axis collection method of the submission for 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
64 26 6 34 0 0 24 61

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
Usher syndrome, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 27 2 2 2
likely pathogenic 10 0 18 2 1
benign 1 0 0 3 1

Condition to condition summary #

Total conditions: 20
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 2; Usher syndrome, type 1 0 21 0 12 0 0 10 22
not provided 0 11 0 8 0 0 9 17
not specified 0 3 0 2 0 0 8 10
Usher syndrome, type 1 138 7 0 6 0 0 0 6
Deafness, autosomal recessive 2 0 4 0 4 0 0 0 4
MYO7A-Related Disorders 0 2 0 3 0 0 1 4
Nonsyndromic Hearing Loss, Recessive 0 1 0 2 0 0 2 4
Retinal dystrophy 0 0 0 2 0 0 2 4
Retinitis pigmentosa-deafness syndrome 0 1 0 2 0 0 2 4
Usher syndrome 0 1 0 4 0 0 0 4
Usher syndrome, type 1C 0 0 3 1 0 0 1 4
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 3 0 3 0 0 0 3
Nonsyndromic Hearing Loss, Dominant 0 1 0 2 0 0 1 3
Usher syndrome, type 1C; Deafness, autosomal recessive 18 0 1 0 1 0 0 1 2
Usher syndrome, type 1G 0 1 2 0 0 0 0 2
Deafness, autosomal dominant 11 0 1 0 1 0 0 0 1
Usher syndrome, type 1D 0 1 0 0 0 0 1 1
Usher syndrome, type 1F 0 1 0 1 0 0 0 1
Usher syndrome, type 1J 0 0 1 0 0 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 61
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.132+5G>A rs397516284
NM_000260.3(MYO7A):c.1403_1404insGCA (p.Arg467_His468insGln) rs111033219
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.1976C>A (p.Ser659Ter) rs878853378
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2187+1G>A rs111033290
NM_000260.3(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.3(MYO7A):c.285+2T>C rs782292032
NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs) rs1555090368
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000260.3(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.3(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
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.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
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.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.3(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.3(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.3(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.3(MYO7A):c.6439-2A>G rs397516330
NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.3(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.3(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.3(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_001127180.1(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006383.3(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_022124.5(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_032119.3(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs) rs397517451
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.3(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.3(USH1C):c.496+59_479-35GAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[7]GAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[2] rs55983148
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs) rs397515345
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382

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