Variants studied for Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature 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
5	9	492	50	1	556

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	5	9	468	46	1	528
KMT2D, LOC126861520	0	0	24	4	0	28

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	6	476	46	1	529
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	2	15	4	0	21
Juno Genomics, Hangzhou Juno Genomics, Inc	3	2	1	0	0	6
Molecular Genetics Lab, CHRU Brest	2	0	0	0	0	2

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