ClinVar Miner

Variants studied for X-linked retinoschisis

Included ClinVar conditions (2):
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
15 18 4 3 4 42

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDKL5, RS1 13 16 3 3 2 35
RS1 2 2 1 0 2 7

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 11 0 0 0 0 11
Counsyl 3 8 0 0 0 11
Natera, Inc. 0 0 2 3 4 9
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 6
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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