ClinVar Miner

Variants from Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez

Location: Mexico  Primary collection method: research
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
1 3 0 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic total
TPM1 0 3 3
PORCN 1 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic total
Atrial septal defect 1 0 1 1
Focal dermal hypoplasia 1 0 1
Pulmonary atresia with intact ventricular septum 0 1 1
Tetralogy of Fallot 0 1 1

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