ClinVar Miner

Variants studied for Fraser syndrome 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 9 178 23 12 221

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRIP1 4 9 163 23 12 206
ADAMTS14 0 0 1 0 0 1
AIPL1 0 0 1 0 0 1
ASPA, SPATA22 0 0 1 0 0 1
BCLAF1 0 0 1 0 0 1
BORCS6 0 0 1 0 0 1
GNB5 0 0 1 0 0 1
LSM10 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MPC1 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
ODAD1 0 0 1 0 0 1
PTCH1 0 0 1 0 0 1
TLCD3A 0 0 1 0 0 1
WDR81 0 0 1 0 0 1
ZXDA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 9 110 10 2 131
Illumina Laboratory Services, Illumina 0 0 60 13 9 82
Department of Molecular Biology and Genetics, Acibadem University 1 0 15 0 0 16
Genome-Nilou Lab 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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