ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome type 1B

Coded as:
Minimum review status of the submission for Usher syndrome type 1B: Collection method of the submission for Usher syndrome type 1B:
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
670 132 0 43 21 0 9 70

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 1B pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 0 1 1
likely pathogenic 9 0 4 0 0
uncertain significance 0 4 0 3 0
likely benign 0 0 13 0 1
benign 1 0 5 18 0

Condition to condition summary #

Total conditions: 2
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
Usher syndrome type 1 0 127 0 42 21 0 9 69
Usher syndrome type 1B 863 6 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.01973
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01687
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01192
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00497
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00325
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00224
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00086
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00074
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00042
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00012
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00003
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.3109-2A>G rs781977497
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081

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