ClinVar Miner

Variants in gene combination LOC102723833, USH2A

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Minimum submission review status: Collection method:
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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
20 23 32 18 6 86

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 8 18 6 30
Usher syndrome, type 2A; Retinitis pigmentosa 39 2 12 9 3 0 26
not provided 7 4 14 0 0 24
Usher syndrome, type 2A 8 3 1 0 0 12
Retinitis pigmentosa 1 5 2 0 0 8
Usher syndrome 2 1 1 0 0 4
Retinitis pigmentosa 39 2 0 0 0 0 2
Leber congenital amaurosis 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone 0 0 1 0 0 1
USH2A-Related Disorders 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 1 8 15 5 36
Counsyl 2 12 9 3 0 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 11 0 1 15
GeneDx 4 1 1 4 2 12
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 3 2 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 3 0 0 6
PreventionGenetics 0 0 0 0 3 3
Human Genetics - Radboudumc,Radboudumc 3 0 0 0 0 3
NIHR Bioresource Rare Diseases,University of Cambridge 0 3 0 0 0 3
ClinGen Hearing Loss Variant Curation Expert Panel, 1 0 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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