Variants studied for Maple syrup urine disease type 1B

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
29	37	30	5	5	1	105

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
BCKDHB	29	37	30	5	5	1	105

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Natera, Inc.	16	7	29	5	5	0	62
Fulgent Genetics, Fulgent Genetics	13	29	0	0	0	0	42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	12	1	0	0	0	0	13
OMIM	6	0	0	0	0	0	6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	2	1	0	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	0	0	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	1	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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