ClinVar Miner

Variants in gene SCARB2

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 total
24 2 63 49 14 139

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Progressive myoclonic epilepsy 1 0 35 15 6 57
not specified 0 0 2 37 14 51
not provided 4 1 33 0 3 41
Epilepsy, progressive myoclonic 4, with or without renal failure 21 1 5 0 1 27
Seizures 0 0 6 7 3 16
Rolandic epilepsy 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 4 1 21 34 12 72
Invitae 1 0 35 15 6 57
GeneReviews 20 0 0 0 0 20
Ambry Genetics 0 0 6 7 3 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 14 1 1 16
OMIM 7 0 0 0 0 7
PreventionGenetics 0 0 0 1 6 7
Athena Diagnostics Inc 0 0 3 1 2 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Fulgent Genetics 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 2
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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