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
29 17 6 23 0 0 18 42

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 14 5 2 6
likely pathogenic 10 0 8 3 3
uncertain significance 0 1 0 0 0
benign 1 0 0 3 1

Condition to condition summary #

Total conditions: 23
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
not provided 0 7 0 9 0 0 10 18
not specified 0 3 0 1 0 0 11 12
Rare genetic deafness 0 15 0 8 0 0 1 9
Usher syndrome 0 1 0 4 0 0 5 9
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 7 0 4 0 0 1 5
Usher syndrome, type 1C 0 1 3 1 0 0 2 5
Usher syndrome, type 1 80 4 0 4 0 0 0 4
Deafness, autosomal recessive 2 0 12 0 3 0 0 0 3
Nonsyndromic Hearing Loss, Dominant 0 1 0 2 0 0 1 3
Nonsyndromic Hearing Loss, Recessive 0 1 0 2 0 0 1 3
Retinitis pigmentosa-deafness syndrome 0 1 0 2 0 0 1 3
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 3 0 2 0 0 0 2
Deafness, autosomal recessive 18 0 2 0 2 0 0 1 2
MYO7A-Related Disorders 0 2 0 2 0 0 0 2
Retinal dystrophy 0 1 0 1 0 0 1 2
Usher syndrome, type 1C; Deafness, autosomal recessive 18 0 0 0 0 0 0 2 2
Usher syndrome, type 1G 0 1 2 0 0 0 0 2
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 0 0 0 0 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Usher syndrome, type 2C 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.