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
8 6 194 109 72 1 343

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myopathy, centronuclear, 2 7 5 183 60 19 1 252
not provided 1 1 21 28 48 0 98
not specified 0 0 3 42 19 0 54

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 115 70 12 0 198
GeneDx 0 1 13 32 60 0 106
Illumina Clinical Services Laboratory,Illumina 0 0 71 4 9 0 84
PreventionGenetics, 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
Baylor Genetics 0 0 3 0 0 0 3
Athena Diagnostics Inc 0 0 1 1 1 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Mayo Clinic 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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