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)

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
274	47	1471	2168	1398	5358

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
KMT2D	268	44	1424	2084	1337	5157
KMT2D, LOC126861520	6	2	45	84	61	198
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
KDM5C	0	1	0	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	274	45	1471	2168	1398	5356
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	2	0	0	0	2

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