ClinVar Miner

Variants in gene DAB1

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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
1 1 59 30 38 121

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 7 20 34 57
not specified 0 0 49 2 0 51
DAB1-related disorder 0 0 1 8 3 12
Spinocerebellar ataxia type 37 1 0 5 0 1 7
Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome 0 0 0 1 0 1
See cases 0 0 1 0 0 1
Spastic ataxia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 47 2 0 49
GeneDx 0 0 1 0 27 28
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 18 20
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 10 7 17
CeGaT Center for Human Genetics Tuebingen 0 0 3 10 0 13
PreventionGenetics, part of Exact Sciences 0 0 1 8 3 12
Revvity Omics, Revvity 0 0 3 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
ISCA site 1 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 1
Genetics of Cognitive Dysfunction Laboratory, I3S-IBMC, University of Porto 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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