Variants in gene NLRP2 - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
3	1	152	96	36	1	24	298

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
not specified	0	0	107	15	0	0	0	122
not provided	0	0	45	28	21	0	24	115
NLRP2-related disorder	0	0	0	62	30	0	0	92
Oocyte/zygote/embryo maturation arrest 18	3	1	0	0	0	0	0	4
Multisystem inflammatory syndrome in children	0	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
Ambry Genetics	0	0	107	15	0	0	0	122
PreventionGenetics, part of Exact Sciences	0	0	0	62	30	0	0	92
GeneDx	0	0	41	0	7	0	0	48
CeGaT Center for Human Genetics Tuebingen	0	0	3	21	4	0	0	28
Human Evolutionary Genetics, Institut Pasteur	0	0	0	0	0	0	24	24
Breakthrough Genomics, Breakthrough Genomics	0	0	1	4	18	0	0	23
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	9	12	0	0	21
OMIM	3	0	0	0	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	0	1	0	1
New York Genome Center	0	0	1	0	0	0	0	1

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