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 not provided total
0 0 189 247 83 2 516

Condition and significance breakdown #

Total conditions: 3
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Condition uncertain significance likely benign benign not provided total
not provided 3 209 82 2 293
Epileptic encephalopathy 187 36 1 0 224
not specified 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter uncertain significance likely benign benign not provided total
Invitae 187 244 83 0 514
Fulgent Genetics,Fulgent Genetics 5 0 0 0 5
GeneDx 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 2 2

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