Variants with conflicting interpretations studied for Roberts-SC phocomelia syndrome

Minimum review status of the submission for Roberts-SC phocomelia syndrome:		Collection method of the submission for Roberts-SC phocomelia syndrome:
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
91	19	1	5	5	0	0	11

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
Roberts-SC phocomelia syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	1	1	0	0	0
	likely pathogenic	1	0	0	0	0
	uncertain significance	0	0	0	4	1
	likely benign	0	0	2	0	4
	benign	0	0	0	3	0

Condition to condition summary #

Total conditions: 2

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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
Roberts-SC phocomelia syndrome	97	17	1	4	2	0	0	7
Roberts syndrome	0	5	0	1	3	0	0	4

All variants with conflicting interpretations #

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	rs57479434	0.00323
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)	rs73568217	0.00321
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)	rs141631911	0.00262
NM_001017420.3(ESCO2):c.1013+7A>G	rs149494070	0.00074
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	rs201989984	0.00014
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	rs199653554	0.00011
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	rs557813179	0.00010
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	rs750159862	0.00004
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)	rs535236969	0.00001
NM_001017420.3(ESCO2):c.955+2_955+5del	rs80359858

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