ClinVar Miner

Variants studied for Retinitis pigmentosa 28

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
16 64 74 13 11 170

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
FAM161A 16 57 68 12 10 155
FAM161A, LOC129933843 0 7 6 1 1 15

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 6 1 68 10 7 92
Baylor Genetics 11 54 3 0 0 68
Fulgent Genetics, Fulgent Genetics 8 17 6 0 0 31
Genome-Nilou Lab 0 0 0 2 7 9
Revvity Omics, Revvity 4 3 0 0 0 7
Counsyl 4 0 2 0 1 7
OMIM 6 0 0 0 0 6
Ocular Genomics Institute, Massachusetts Eye and Ear 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1

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