Variants with conflicting interpretations studied for Niemann-Pick disease, type B; Niemann-Pick disease, type A

Minimum review status of the submission for Niemann-Pick disease, type B; Niemann-Pick disease, type A:		Collection method of the submission for Niemann-Pick disease, type B; Niemann-Pick disease, type A:
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
754	27	0	6	2	0	7	15

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
Niemann-Pick disease, type B; Niemann-Pick disease, type A		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	6	2	0	0
	likely pathogenic	6	0	5	0	0
	uncertain significance	2	5	0	1	1
	likely benign	0	0	1	0	0
	benign	0	0	1	0	0

Condition to condition summary #

Total conditions: 1

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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
Niemann-Pick disease, type B; Niemann-Pick disease, type A	754	27	0	6	2	0	7	15

All variants with conflicting interpretations #

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00071
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)	rs149939736	0.00051
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)	rs144465428	0.00014
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)	rs1206562843	0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	rs763566905	0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	0.00001
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])	rs3838786
NM_000543.5(SMPD1):c.1091+1G>A	rs1847955457
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)	rs281860665
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	rs120074117
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	rs751269562
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)	rs1847925080
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)	rs202081954

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