ClinVar Miner

Variants studied for Bjornstad syndrome

Included ClinVar conditions (3):
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
16 55 12 5 4 86

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BCS1L 16 55 11 5 4 85
BCS1L, LOC129935609 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 15 43 0 0 0 58
Fulgent Genetics, Fulgent Genetics 3 7 9 5 0 24
Myriad Genetics, Inc. 0 7 2 0 0 9
Genome-Nilou Lab 0 0 1 0 4 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
OMIM 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1

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