Variants with conflicting interpretations studied for MTR-related disorder

Minimum review status of the submission for MTR-related disorder:		Collection method of the submission for MTR-related disorder:
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
9	3	0	8	6	1	0	14

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
MTR-related disorder		uncertain significance	likely benign	benign	risk factor
	likely benign	6	0	1	1
	benign	0	7	0	0

Condition to condition summary #

Total conditions: 4

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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 category conflict (e.g. benign vs affects)	Variants with any conflict
Disorders of Intracellular Cobalamin Metabolism	7	4	5	0	9
not provided	4	6	2	0	8
not specified	4	3	0	0	3
Neural tube defects, folate-sensitive, susceptibility to	0	0	0	1	1

All variants with conflicting interpretations #

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)	rs1805087	0.21318
NM_000254.3(MTR):c.1033G>A (p.Val345Ile)	rs145006491	0.00514
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)	rs142113735	0.00510
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg)	rs113042166	0.00401
NM_000254.3(MTR):c.1485G>A (p.Met495Ile)	rs2229275	0.00241
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)	rs116836001	0.00235
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)	rs144777709	0.00073
NM_000254.3(MTR):c.1977A>G (p.Lys659=)	rs144767461	0.00036
NM_000254.3(MTR):c.3712-7T>G	rs151081130	0.00036
NM_000254.3(MTR):c.866-10C>G	rs368755647	0.00010
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)	rs529430607	0.00008
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=)	rs560615373	0.00007
NM_000254.3(MTR):c.2772C>G (p.Leu924=)	rs533541925	0.00002
NM_000254.3(MTR):c.742G>A (p.Val248Met)	rs142648132

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