ClinVar Miner

Variants with conflicting interpretations between ClinGen Cardiomyopathy Variant Curation Expert Panel and Color Diagnostics, LLC DBA Color Health

Minimum review status of the submission from ClinGen Cardiomyopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen Cardiomyopathy Variant Curation Expert Panel:
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
30 49 0 3 4 0 0 7

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.

uncertain significance likely benign
likely benign 4 0
benign 0 3

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
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.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462

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