ClinVar Miner

Variants with conflicting interpretations studied for Hypertrophic cardiomyopathy 1

Coded as:
Minimum review status of the submission for Hypertrophic cardiomyopathy 1: Collection method of the submission for Hypertrophic cardiomyopathy 1:
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 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
733 50 0 37 11 0 12 55

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
Hypertrophic cardiomyopathy 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 25 3 0 0
likely pathogenic 26 0 7 2 0
uncertain significance 1 6 0 6 2
likely benign 0 2 9 0 8
benign 0 0 3 7 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
Hypertrophic cardiomyopathy 1 761 39 0 29 7 0 4 38
Primary familial hypertrophic cardiomyopathy 0 27 0 18 6 0 10 31

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713

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