Variants studied for Inflammatory skin and bowel disease, neonatal, 1

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
15	5	205	204	30	1	454

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ADAM17, IAH1	7	3	114	102	21	0	243
ADAM17	8	2	91	102	9	1	211

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	14	3	201	201	24	0	443
Genome-Nilou Lab	0	0	0	0	7	0	7
Fulgent Genetics, Fulgent Genetics	0	0	0	3	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	1	0	0	2
OMIM	1	0	0	0	0	0	1
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	0	1	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

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