Variants studied for GRACILE 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	total
13	36	44	8	9	99

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BCS1L	13	36	39	8	9	94
BCS1L, LOC129935609	0	0	5	0	0	5

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Counsyl	0	24	17	0	0	41
Natera, Inc.	5	2	10	7	7	31
Illumina Laboratory Services, Illumina	0	0	17	1	3	21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	8	6	0	0	0	14
Baylor Genetics	2	1	2	0	0	5
Genome-Nilou Lab	0	0	1	0	4	5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	4	0	0	0	4
Mendelics	0	2	0	0	1	3
Myriad Genetics, Inc.	2	0	0	0	0	2
OMIM	1	0	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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