ClinVar Miner

Variants with conflicting interpretations studied for USH2A-related disorder

Coded as:
Minimum review status of the submission for USH2A-related disorder: Collection method of the submission for USH2A-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
23 80 0 59 39 0 17 94

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
USH2A-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 15 2 0 0
likely pathogenic 24 0 10 0 0
uncertain significance 2 3 0 12 1
likely benign 0 1 26 0 19
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
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
not provided 0 83 0 52 37 0 12 89
not specified 0 33 0 10 17 0 8 32
Monogenic hearing loss 0 4 0 3 0 0 2 5
Rare genetic deafness 0 10 0 4 0 0 0 4
Autosomal recessive USH2A-related disorders 0 2 0 2 0 0 0 2
USH2A-related disorder 189 6 0 2 0 0 0 2
Progressive cone dystrophy (without rod involvement) 0 0 0 0 1 0 0 1
See cases 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.12066+4409C>G rs115494070 0.00622
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00222
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00145
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00117
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00100
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00098
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00098
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00092
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00059
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00057
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00054
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00038
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00022
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile) rs143208990 0.00019
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00017
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00013
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689 0.00013
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00013
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00008
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) rs750789180 0.00007
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401 0.00007
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00006
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) rs764479854 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter) rs1364987785 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.5573-834A>G rs1558244152 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His) rs554957414 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.10183-2A>G rs1661818720
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) rs553956503
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter) rs368798834
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.