ClinVar Miner

Variants studied for Hydranencephaly with renal aplasia-dysplasia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
4 1 2 0 0 7

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CEP55 4 1 2 7

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 2 0 0 2
Baylor Genetics 1 0 1 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
New Leaf Center 1 0 0 1

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