ClinVar Miner

Variants with conflicting interpretations studied for MYO7A-related disorder

Minimum review status of the submission for MYO7A-related disorder: Collection method of the submission for MYO7A-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
16 79 0 27 41 0 7 67

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
MYO7A-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 2 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 2 3 0 13 1
likely benign 0 0 27 0 9
benign 0 0 1 3 0

Condition to condition summary #

Total conditions: 6
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 23 39 0 6 62
not specified 0 49 0 5 8 0 3 16
Rare genetic deafness 0 5 0 6 0 0 1 7
Bilateral sensorineural hearing impairment 0 0 0 1 0 0 0 1
MYO7A-related disorder 157 4 0 1 0 0 0 1
Monogenic hearing loss 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00279
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
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.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000260.4(MYO7A):c.*8C>T rs370206645 0.00095
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00066
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00061
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00042
NM_000260.4(MYO7A):c.735+3G>A rs371398512 0.00037
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00033
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) rs374655803 0.00024
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00023
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) rs185748200 0.00022
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00018
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00017
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00007
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs) rs782312060 0.00006
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00005
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00005
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3924+8C>T rs565801140 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) rs773907543 0.00004
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=) rs569293775 0.00003
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2838del (p.Met946fs) rs782636104 0.00001
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) rs535102352 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.395C>T (p.Pro132Leu) rs370395532
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4667_4668delinsTA (p.Pro1556Leu) rs1956921681
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512

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