Variants studied for Maple syrup urine disease type 1A

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
13	6	36	16	24	95

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	total
BCKDHA	13	6	36	16	17	88
DBT	0	0	0	0	7	7

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Natera, Inc.	13	3	34	16	17	83
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	10	10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	6	1	0	0	0	7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	2
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	0	1	1	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1

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