ClinVar Miner

Variants in gene ITGA7

Minimum submission review status: Collection method:
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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
17 11 237 139 67 2 426

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 17 6 206 63 30 2 323
not provided 0 4 41 39 29 0 111
not specified 0 0 9 59 31 0 77
Congenital Muscular Dystrophy, ITGA7-related 0 0 2 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 4 201 83 31 0 332
GeneDx 0 2 17 50 44 0 113
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 25 5 19 0 49
PreventionGenetics, PreventionGenetics 0 0 0 6 21 0 27
Genetic Services Laboratory, University of Chicago 1 0 3 14 1 0 19
Baylor Genetics 0 0 7 0 0 0 7
Athena Diagnostics Inc 0 0 0 1 6 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 1 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 2 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 0 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 3 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1

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