ClinVar Miner

Variants with conflicting interpretations studied for Freeman-Sheldon syndrome

Coded as:
Minimum review status of the submission for Freeman-Sheldon syndrome: Y axis collection method of the submission for Freeman-Sheldon 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
3 77 0 25 6 0 0 31

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
Freeman-Sheldon syndrome uncertain significance likely benign benign
uncertain significance 0 5 1
likely benign 1 0 25

Condition to condition summary #

Total conditions: 4
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 6 0 24 3 0 0 27
not provided 0 0 0 2 2 0 0 4
Arthrogryposis multiplex congenita 0 105 0 0 1 0 0 1
Freeman-Sheldon syndrome 110 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_002470.3(MYH3):c.1960-8dupT rs3216884
NM_002470.4(MYH3):c.1581+13A>C rs2285468
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657
NM_002470.4(MYH3):c.2166-15A>G rs876660
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389
NM_002470.4(MYH3):c.2683-14C>A rs202129717
NM_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472
NM_002470.4(MYH3):c.2926-12A>G rs2285473
NM_002470.4(MYH3):c.2926-8C>T rs188588330
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499
NM_002470.4(MYH3):c.4647+6T>G rs375163919
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5457+3G>A rs200954595
NM_002470.4(MYH3):c.5457+9dup rs397750512
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203

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