ClinVar Miner

Variants in gene BIN1

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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
8 7 332 323 94 2 698

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myopathy, centronuclear, 2 7 6 310 257 39 2 582
not provided 1 1 43 58 65 0 165
not specified 0 0 2 32 19 0 45
Inborn genetic diseases 0 0 14 1 0 0 15
BIN1-related condition 0 0 0 8 2 0 10
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 248 256 28 0 534
GeneDx 0 1 34 60 78 0 173
Illumina Laboratory Services, Illumina 0 0 58 3 9 0 70
PreventionGenetics, part of Exact Sciences 0 0 0 15 20 0 35
Revvity Omics, Revvity 0 2 29 0 0 0 31
Genetic Services Laboratory, University of Chicago 1 0 4 9 6 0 20
Eurofins Ntd Llc (ga) 1 0 11 1 6 0 19
Ambry Genetics 0 0 14 1 0 0 15
CeGaT Center for Human Genetics Tuebingen 0 0 4 10 1 0 15
Genome-Nilou Lab 0 0 0 0 13 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 7 0 7
OMIM 6 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 0 4
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Breda Genetics srl 0 0 2 0 0 0 2
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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