Variants studied for Kabuki 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	total
234	40	1001	1639	1125	4034

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	total
KMT2D	229	39	970	1578	1078	3889
KMT2D, LOC126861520	5	1	29	61	47	143
ADCY6, ARF3, CACNB3, CCDC65, DDN, DDX23, FKBP11, KMT2D, PRKAG1, RND1, WNT1, WNT10B	0	0	1	0	0	1
ARF3, CCDC65, DDN, DHH, FKBP11, KMT2D, PRKAG1, RHEBL1, WNT1, WNT10B	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	234	40	995	1637	1125	4031
Illumina Laboratory Services, Illumina	0	0	8	2	0	10

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