Variants studied for chromosome 2p16.3 deletion syndrome

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	0	32	7	0	1	1	43

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	risk factor	not provided	total
NRXN1	3	32	7	1	1	43

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	uncertain significance	likely benign	risk factor	not provided	total
Fulgent Genetics, Fulgent Genetics	0	23	6	0	0	29
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	7	1	0	0	8
Juno Genomics, Hangzhou Juno Genomics, Inc	1	2	0	0	0	3
OMIM	0	0	0	1	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	1	0	0	0	0	1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	0	0	0	0	1	1
Molecular Genetics Lab, CHRU Brest	0	1	0	0	0	1

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