ClinVar Miner

Variants studied for Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Interstitial pulmonary abnormality; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus

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
1 0 2 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance total
INPP5E 1 0 1
TNFRSF13B 0 1 1
VANGL1 0 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic uncertain significance total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 2 3

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