ClinVar Miner

Variants studied for Baller-Gerold 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
133 32 1578 555 87 2374

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RECQL4 133 32 1578 555 87 2374

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 131 29 1569 553 86 2368
Fulgent Genetics,Fulgent Genetics 1 0 36 0 0 37
Mendelics 0 1 3 2 1 7
Baylor Genetics 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Medical Genetics Lab, Xi'an Fourth Hospital 0 1 0 0 0 1

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