ClinVar Miner

Variants with conflicting interpretations studied for MYH9-related disorder

Coded as:
Minimum review status of the submission for MYH9-related disorder: Y axis collection method of the submission for MYH9-related disorder:
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
20 114 7 22 12 0 0 39

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
MYH9-related disorder pathogenic uncertain significance likely benign benign
pathogenic 7 0 0 0
likely pathogenic 1 0 0 0
uncertain significance 0 0 2 0
likely benign 0 10 0 21

Condition to condition summary #

Total conditions: 3
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 specified 0 37 0 21 4 0 0 25
not provided 0 6 0 4 9 0 0 13
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 3 7 1 0 0 0 8

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_002473.5(MYH9):c.*8C>T rs201455315
NM_002473.5(MYH9):c.1083C>T (p.Asp361=) rs56001030
NM_002473.5(MYH9):c.1108+9C>T rs145751072
NM_002473.5(MYH9):c.1176G>A (p.Pro392=) rs143316848
NM_002473.5(MYH9):c.132C>T (p.Ala44=) rs138526426
NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) rs147122501
NM_002473.5(MYH9):c.1479G>A (p.Gln493=) rs376262583
NM_002473.5(MYH9):c.1626C>T (p.Phe542=) rs7285745
NM_002473.5(MYH9):c.1729-6C>T rs9622375
NM_002473.5(MYH9):c.18C>T (p.Ala6=) rs141055332
NM_002473.5(MYH9):c.2038-5T>C rs8137674
NM_002473.5(MYH9):c.2061C>T (p.Leu687=) rs143801000
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.5(MYH9):c.2448C>T (p.Cys816=) rs113285582
NM_002473.5(MYH9):c.2517G>A (p.Gln839=) rs34498733
NM_002473.5(MYH9):c.2721C>T (p.Thr907=) rs148112044
NM_002473.5(MYH9):c.2872G>A (p.Ala958Thr) rs151036570
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.5(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330
NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.5(MYH9):c.3561C>A (p.Ile1187=) rs876657520
NM_002473.5(MYH9):c.3838-12C>T rs113698937
NM_002473.5(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002473.5(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.5(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727
NM_002473.5(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195
NM_002473.5(MYH9):c.4818G>A (p.Ser1606=) rs202132383
NM_002473.5(MYH9):c.4878C>T (p.Ile1626=) rs143947828
NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002473.5(MYH9):c.5483+4C>G rs56327920
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.5(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099
NM_002473.5(MYH9):c.705+11C>T rs201738304
NM_002473.5(MYH9):c.7C>G (p.Gln3Glu) rs56200894

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