Variants studied for congenital short bowel 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	not provided	total
8	3	29	17	4	1	60

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
FLNA	3	0	28	17	3	1	51
CLMP	4	2	0	0	0	0	6
FLNA, LOC107988032	0	0	1	0	1	0	2
CLMP, LOC112042785	1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	21	14	4	0	39
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	3	0	0	10
OMIM	6	0	0	0	0	0	6
Clinical Genetics Group, University of Otago	2	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	1	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	1	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1

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