ClinVar Miner

Variants studied for Baller-Gerold syndrome

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 not provided total
287 64 2687 1513 113 13 4658

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RECQL4 268 58 2522 1417 109 13 4368
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: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 286 60 2678 1511 112 0 4647
GeneReviews 0 0 0 0 0 13 13
Genome-Nilou Lab 0 0 0 0 12 0 12
Baylor Genetics 1 0 8 0 0 0 9
Mendelics 1 1 3 2 0 0 7
OMIM 3 0 0 0 0 0 3
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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.