ClinVar Miner

Variants studied for Baller-Gerold syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
315 68 2686 1669 113 13 4843

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 295 62 2523 1563 109 13 4544
LOC130001411, RECQL4 18 6 162 106 4 0 296
ARHGAP39, C8orf82, LRRC14, LRRC24, RECQL4, ZNF251 1 0 0 0 0 0 1
GPT, RECQL4, SLC33A2 0 0 1 0 0 0 1
LRRC14, RECQL4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 313 62 2677 1667 112 0 4831
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
OMIM 3 0 0 0 0 0 3
3billion 1 1 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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