ClinVar Miner

Variants studied for Ichthyosis prematurity syndrome

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 not provided total
13 3 0 0 0 1 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic not provided total
SLC27A4 13 3 1 16

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic not provided total
OMIM 11 0 0 11
Mendelics 2 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 2
PerkinElmer Genomics 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1
GenomeConnect, ClinGen 0 0 1 1

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