ClinVar Miner

Variants studied for Fraser syndrome 3

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
3 0 85 20 12 117

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 3 70 20 12 102
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: 12
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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 Omics 0 3 0 0 3
OMIM 2 0 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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