Variants in gene combination KANSL1, MAPT

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
0	0	1	23	26	48

Condition and significance breakdown #

Total conditions: 4

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Condition	uncertain significance	likely benign	benign	total
MAPT-Related Spectrum Disorders	0	21	26	47
Syndromic intellectual disability	0	23	20	43
not provided	1	1	4	6
Koolen-de Vries syndrome	0	0	4	4

Submitter and significance breakdown #

Total submitters: 7

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Submitter	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	23	26	47
GeneDx	0	1	4	5
Athena Diagnostics Inc	0	0	4	4
Invitae	0	0	4	4
Mendelics	0	0	1	1
Fulgent Genetics, Fulgent Genetics	0	0	1	1
Quest Diagnostics Nichols Institute San Juan Capistrano	1	0	0	1

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