ClinVar Miner

Variants in gene FASN

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 association not provided total
0 0 471 343 83 1 2 894

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign association not provided total
Epileptic encephalopathy 468 292 78 0 0 838
not provided 3 84 5 0 2 94
not specified 0 2 0 0 0 2
Autism spectrum disorder 0 0 0 1 0 1
Seizures 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter uncertain significance likely benign benign association not provided total
Invitae 468 340 83 0 0 891
Fulgent Genetics,Fulgent Genetics 5 0 0 0 0 5
GeneDx 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1

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