ClinVar Miner

Variants studied for Stargardt disease

Coded as:
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
115 81 27 0 0 4 219

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
ABCA4 69 56 9 2 128
PRPH2 19 14 13 0 46
ABCA4, LOC126805793 6 3 2 0 11
PROM1 7 0 0 1 8
BEST1 2 2 1 0 5
ABCA4, LOC126805794 2 1 0 0 3
CRX 1 2 0 0 3
CRB1 1 0 1 0 2
LRIT3 2 0 0 0 2
CERKL 1 0 0 0 1
COL2A1 1 0 0 0 1
EYS 0 1 0 0 1
FLVCR1 0 1 0 0 1
GPHN, RDH12 0 1 0 0 1
KCNV2 1 0 0 0 1
OPA1 1 0 0 0 1
PCARE 1 0 0 0 1
RP1L1 0 0 0 1 1
SNRNP200 0 0 1 0 1
TULP1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 15 29 7 0 51
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 18 14 13 0 45
Sharon lab, Hadassah-Hebrew University Medical Center 29 14 0 0 43
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 24 9 0 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 6 1 0 14
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 11 3 0 0 14
Molecular Genetics Laboratory, Institute for Ophthalmic Research 12 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 2 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 5 0 6
GenomeConnect, ClinGen 0 0 0 4 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 4
OMIM 3 0 0 0 3
DBGen Ocular Genomics 2 1 0 0 3
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1

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