ClinVar Miner

Variants studied for retinitis pigmentosa 73

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
99 38 286 552 25 985

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HGSNAT 92 35 260 484 22 878
HGSNAT, LOC130000316 6 3 21 68 3 101
HGSNAT, POMK 1 0 2 0 0 3
FNTA, HGSNAT, POMK, POTEA 0 0 1 0 0 1
HGSNAT, LOC121740716, LOC130000316, LOC130000317, LOC130000318, LOC130000319, LOC130000320, LOC130000321, POMK 0 0 1 0 0 1
HGSNAT, POTEA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 95 26 279 550 24 974
Fulgent Genetics, Fulgent Genetics 8 2 11 3 0 24
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 3 5 0 0 0 8
Genome-Nilou Lab 0 0 1 0 3 4
OMIM 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
3billion 0 0 1 0 0 1

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