ClinVar Miner

Variants in gene ACVR2B

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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 total
2 2 212 63 94 359

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Heterotaxy, visceral, 4, autosomal 2 2 176 49 79 298
not provided 0 0 8 12 42 62
not specified 0 0 21 3 8 31
Visceral heterotaxy 0 0 21 3 2 26
ACVR2B-related disorder 0 0 3 6 0 9

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 150 20 71 241
Labcorp Genetics (formerly Invitae), Labcorp 0 2 44 36 17 99
Breakthrough Genomics, Breakthrough Genomics 0 0 8 4 31 43
Ambry Genetics 0 0 21 0 0 21
GeneDx 0 0 0 0 19 19
PreventionGenetics, part of Exact Sciences 0 0 3 8 8 19
CeGaT Center for Human Genetics Tuebingen 0 0 0 5 2 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 5 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 3
Clinical Genetics, Academic Medical Center 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 1 1 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Mendelics 0 0 0 1 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1

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