ClinVar Miner

Variants in gene combination EHMT1, LOC651337

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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
3 2 2 0 0 7

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance total
See cases 3 0 2 5
not provided 0 2 0 2

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance total
ISCA site 1 2 0 1 3
GeneDx 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1
ISCA site 4 1 0 0 1

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