ClinVar Miner

Variants studied for Baller-Gerold syndrome

Included ClinVar conditions (4):
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 not provided total
289 69 2699 1514 113 18 4662

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RECQL4 270 63 2534 1418 109 18 4372
LOC130001411, RECQL4 17 6 164 96 4 0 287
ARHGAP39, C8orf82, LRRC14, LRRC24, RECQL4, ZNF251 1 0 0 0 0 0 1
GPT, MFSD3, RECQL4 0 0 1 0 0 0 1
LRRC14, RECQL4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 288 60 2679 1511 112 0 4650
Fulgent Genetics, Fulgent Genetics 6 3 68 1 0 0 78
GeneReviews 0 0 0 0 0 13 13
Genome-Nilou Lab 0 0 0 0 12 0 12
Baylor Genetics 1 1 8 0 0 0 10
Mendelics 1 1 3 2 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 1 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
OMIM 3 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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