Variants studied for branched-chain keto acid dehydrogenase kinase deficiency

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
6	2	31	43	6	88

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
BCKDK	6	2	30	43	6	87
ARMC5, BCKDK, BCL7C, CFAP119, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	0	26	43	6	75
OMIM	4	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
Undiagnosed Diseases Network, NIH	0	0	2	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	1	0	0	0	1

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