Variants studied for Fraser syndrome 3

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
4	0	86	20	12	119

Gene and significance breakdown #

Total genes and gene combinations: 16

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
GRIP1	4	71	20	12	104
ADAMTS14	0	1	0	0	1
AIPL1	0	1	0	0	1
ASPA, SPATA22	0	1	0	0	1
BCLAF1	0	1	0	0	1
BORCS6	0	1	0	0	1
GNB5	0	1	0	0	1
LSM10	0	1	0	0	1
MED23	0	1	0	0	1
MPC1	0	1	0	0	1
MYO18B	0	1	0	0	1
ODAD1	0	1	0	0	1
PTCH1	0	1	0	0	1
TLCD3A	0	1	0	0	1
WDR81	0	1	0	0	1
ZXDA	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	60	13	9	82
Fulgent Genetics, Fulgent Genetics	0	15	7	2	24
Department of Molecular Bıology and Genetics, Istanbul Technical University	1	15	0	0	16
Genome-Nilou Lab	0	0	0	6	6
Revvity Omics, Revvity	0	3	0	0	3
OMIM	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	2
Baylor Genetics	0	0	1	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	1

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