ClinVar Miner

Variants studied for Greig cephalopolysyndactyly syndrome; Pallister-Hall 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
57 10 109 280 117 572

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLI3 56 10 108 280 117 570
CDK13, GLI3, INHBA, MPLKIP, RALA, SUGCT 1 0 0 0 0 1
GLI3, LOC110121152 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 57 10 107 280 117 571
New York Genome Center 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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