ClinVar Miner

Variants studied for TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay 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 total
1 1 0 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
TRAF7 1 1 2

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic total
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 2

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