Variants studied for neonatal inflammatory skin and bowel disease

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	not provided	total
22	5	255	231	37	1	545

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ADAM17, IAH1	8	3	115	112	22	0	256
ADAM17	10	2	92	116	9	1	228
EGFR	3	0	47	3	6	0	59
EGFR, LOC126860048	1	0	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	16	3	203	225	25	0	472
Fulgent Genetics, Fulgent Genetics	0	0	47	6	0	0	53
Genome-Nilou Lab	0	0	0	0	13	0	13
OMIM	4	0	0	0	0	0	4
Baylor Genetics	1	0	3	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	1	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	0	1
3billion, Medical Genetics	0	1	0	0	0	0	1
Aleixo Muise Laboratory, Hospital For Sick Children	1	0	0	0	0	0	1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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