Variants in gene STXBP3 - 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	total
0	3	36	2	0	41

Condition and significance breakdown #

Total conditions: 5

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Condition	likely pathogenic	uncertain significance	likely benign	total
not specified	0	31	2	33
not provided	2	2	0	4
Immune dysregulation, autoimmunity, and autoinflammation	0	2	0	2
STXBP3-related disorders	1	0	0	1
See cases	0	1	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	likely pathogenic	uncertain significance	likely benign	total
Ambry Genetics	0	31	1	32
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	0	2
Labcorp Genetics (formerly Invitae), Labcorp	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	1
CeGaT Center for Human Genetics Tuebingen	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	1
Molecular Genetics Laboratory, Motol Hospital	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	1	0	1

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