ClinVar Miner

Variants in gene BIN1

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 not provided total
9 6 97 66 70 1 213

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive centronuclear myopathy 8 5 83 28 11 1 124
not provided 1 1 19 5 46 0 72
not specified 0 0 3 42 19 0 54

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 1 13 32 60 0 106
Invitae 1 1 39 18 11 0 70
Illumina Clinical Services Laboratory,Illumina 0 0 40 10 0 0 50
PreventionGenetics 0 0 0 7 18 0 25
Genetic Services Laboratory, University of Chicago 1 0 4 9 6 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 11 1 6 0 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Athena Diagnostics Inc 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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