Variants with conflicting interpretations studied for Hirschsprung Disease, Dominant

Minimum review status of the submission for Hirschsprung Disease, Dominant:		Collection method of the submission for Hirschsprung Disease, Dominant:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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
32	3	0	5	3	0	1	8

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
Hirschsprung Disease, Dominant		likely pathogenic	likely benign	benign
	uncertain significance	0	3	0
	likely benign	1	0	5

Condition to condition summary #

Total conditions: 3

Download table as spreadsheet

Condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
not provided	2	5	3	0	8
not specified	2	2	0	0	2
Aganglionic megacolon	0	0	0	1	1

All variants with conflicting interpretations #

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020975.5(RET):c.-196C>A	rs10900297	0.41632
NM_207034.2(EDN3):c.-248G>A	rs542818479	0.00709
NM_020975.6(RET):c.337+12G>A	rs200468424	0.00198
NM_020975.6(RET):c.693C>T (p.Arg231=)	rs576806329	0.00004
NM_020975.6(RET):c.1760-12G>A	rs377767392	0.00003
NM_000514.4(GDNF):c.*131GGA[10]	rs150577324
NM_207034.3(EDN3):c.148_149del	rs11475273
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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