Variants studied for Baller-Gerold syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	64	2688	1513	113	13	4661

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	58	2523	1417	109	13	4371
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

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	288	60	2679	1511	112	0	4650
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
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

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