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
260	43	1268	1918	1286	4770

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	254	42	1226	1846	1233	4596
KMT2D, LOC126861520	6	1	40	72	53	172
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	260	43	1262	1916	1286	4767
Illumina Laboratory Services, Illumina	0	0	8	2	0	10

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