ClinVar Miner

Variants studied for Bryant-Li-Bhoj neurodevelopmental syndrome 1

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
8 2 3 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
H3-3A 8 2 3 12

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Illumina Laboratory Services, Illumina 1 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 2
3billion 1 0 1 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 1

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