ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome

Coded as:
Minimum review status of the submission for Usher syndrome: Y axis collection method of the submission for Usher syndrome:
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
31 22 2 22 5 0 15 38

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 11 1 0 0
likely pathogenic 12 0 8 2 1
uncertain significance 2 2 0 1 2
likely benign 1 0 2 0 1
benign 1 0 1 1 0

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 16 0 5 1 0 7 13
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 8 0 7 1 0 1 9
Usher syndrome, type 2A 0 7 0 7 0 0 1 8
Usher syndrome, type 1 0 1 0 4 0 0 1 5
not specified 0 11 0 1 1 0 3 5
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 2 0 1 0 0 3 4
Retinitis pigmentosa 0 5 1 3 0 0 0 4
Deafness, autosomal recessive 2 0 0 0 3 0 0 0 3
Inborn genetic diseases 0 1 0 3 0 0 0 3
Usher syndrome 87 1 0 3 0 0 0 3
MYO7A-Related Disorders 0 0 0 1 0 0 1 2
Retinal dystrophy 0 2 0 1 1 0 0 2
Retinitis pigmentosa 39 0 2 0 2 0 0 0 2
USH2A-Related Disorders 0 1 0 1 0 0 1 2
Usher syndrome, type 1C 0 0 1 1 0 0 0 2
Usher syndrome, type 2C 0 0 0 2 0 0 0 2
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 1 0 1 0 0 0 1
Nonsyndromic Hearing Loss, Dominant 0 1 0 0 1 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 1 0 1 0 0 0 1
Usher syndrome, type 1B 0 0 0 0 0 0 1 1
Usher syndrome, type 1C; Deafness, autosomal recessive 18 0 3 0 0 0 0 1 1
Usher syndrome, type 1C; Deafness, autosomal recessive 18; Usher syndrome, type 1 0 0 0 1 0 0 0 1
Usher syndrome, type 1D 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_032119.3(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.3(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.3(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_153676.3(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_206933.2(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.2(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.2(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.2(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.3158-6A>G rs397518010
NM_206933.2(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.2(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.2(USH2A):c.7595-2144A>G rs786200928
NM_206933.2(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8682-9A>G rs372347027

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