ClinVar Miner

Variants in gene combination MHRT, MYH7 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
136 59 1 19 12 0 15 43

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 5 5 0 0
likely pathogenic 5 0 11 1 0
uncertain significance 5 11 0 11 3
likely benign 0 1 11 0 14
benign 0 0 3 14 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000257.2(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.2(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.2(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.2(MYH7):c.4557C>T (p.Ser1519=) rs150552664
NM_000257.2(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.2(MYH7):c.5139G>A (p.Val1713=) rs369562442
NM_000257.3(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.3(MYH7):c.4290G>T (p.Val1430=) rs372476972
NM_000257.3(MYH7):c.4353+10G>A rs202205780
NM_000257.3(MYH7):c.4354-6G>A rs368078397
NM_000257.3(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.3(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.4520-3C>T rs549509054
NM_000257.3(MYH7):c.4618C>T (p.Leu1540=) rs368734580
NM_000257.3(MYH7):c.4644+3G>A rs397516226
NM_000257.3(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.3(MYH7):c.4772T>C (p.Leu1591Pro) rs730880808
NM_000257.3(MYH7):c.4803G>A (p.Leu1601=) rs397516228
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.4827C>T (p.Asn1609=) rs587781085
NM_000257.3(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.3(MYH7):c.4855G>A (p.Glu1619Lys) rs45442096
NM_000257.3(MYH7):c.4911C>T (p.Ala1637=) rs151113658
NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.3(MYH7):c.5186_5188delAGA (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) rs200601164
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) rs770477774
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.