ClinVar Miner

Variants studied for Short stature; Unilateral renal agenesis; Microcephaly; Intellectual disability; Neurodevelopmental delay

Coded as:
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 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
DHX34 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter likely pathogenic total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1

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