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
233	39	999	1639	1125	4030

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
KMT2D	228	38	970	1578	1078	3887
KMT2D, LOC126861520	5	1	29	61	47	143

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	233	39	993	1637	1125	4027
Illumina Laboratory Services, Illumina	0	0	8	2	0	10

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