ClinVar Miner

Variants in gene combination KANSL1, MAPT

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 0 23 26 47

Condition and significance breakdown #

Total conditions: 4
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Condition likely benign benign total
MAPT-Related Spectrum Disorders 21 26 47
Syndromic intellectual disability 23 20 43
not provided 1 4 5
Koolen-de Vries syndrome 0 4 4

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely benign benign total
Illumina Laboratory Services,Illumina 23 26 47
GeneDx 1 4 5
Athena Diagnostics Inc 0 4 4
Invitae 0 4 4
Mendelics 0 1 1

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