ClinVar Miner

Variants in gene ACVR2B

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 total
2 1 168 34 78 274

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Heterotaxy, visceral, 4, autosomal 2 1 147 24 75 240
Heterotaxia 0 0 21 3 2 26
not specified 0 0 0 3 8 10
not provided 0 0 0 6 1 7

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 153 20 71 244
Invitae 0 1 14 11 9 35
PreventionGenetics, PreventionGenetics 0 0 0 2 8 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 5 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
OMIM 2 0 0 0 0 2
GeneDx 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 1

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