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
304	67	2657	1639	113	13	4774

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	284	61	2493	1534	109	13	4475
LOC130001411, RECQL4	18	6	163	105	4	0	296
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: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	303	62	2648	1637	112	0	4762
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
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
Center for Molecular Medicine, Children’s Hospital of Fudan University	1	0	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	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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