ClinVar Miner

Variants in gene LRIT3

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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 not provided total
7 1 271 151 38 1 433

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 214 141 33 0 375
Congenital stationary night blindness 1F 5 0 44 7 8 1 64
Inborn genetic diseases 0 0 58 2 0 0 60
Congenital Stationary Night Blindness, Recessive 0 0 2 12 9 0 23
LRIT3-related disorder 0 0 0 6 4 0 10
not specified 0 0 0 1 10 0 10
Optic atrophy 0 0 2 0 0 0 2
Retinal dystrophy 0 1 1 0 0 0 2
Stargardt disease 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 208 127 25 0 360
Illumina Laboratory Services, Illumina 0 0 43 19 15 0 77
Ambry Genetics 0 0 58 2 0 0 60
Breakthrough Genomics, Breakthrough Genomics 0 0 1 14 20 0 35
GeneDx 0 0 3 0 16 0 19
Eurofins Ntd Llc (ga) 0 0 7 1 8 0 16
PreventionGenetics, part of Exact Sciences 0 0 0 6 4 0 10
OMIM 4 0 0 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 4 0 0 4
Clinical Genetics, Academic Medical Center 0 0 0 0 3 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 3 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 2 0 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 1

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