ClinVar Miner

Variants in gene PDZD7

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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 risk factor total
20 8 221 49 41 1 321

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 9 3 198 39 37 0 282
not specified 0 0 20 15 20 0 53
Deafness, autosomal recessive 57 11 6 6 0 0 0 17
Hearing impairment 0 0 7 0 0 0 7
Usher syndrome, type 2A 1 0 0 0 0 1 2
Rare genetic deafness 0 1 0 0 0 0 1
Sensorineural hearing loss 0 0 1 0 0 0 1
Usher syndrome type 2c, GPR98/PDZD digenic 1 0 0 0 0 0 1
Usher syndrome, type 2C 0 0 1 0 0 0 1
Usher syndrome, type 2C; Usher syndrome, type 2A; Deafness, autosomal recessive 57 0 0 1 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 8 1 186 37 12 0 244
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 19 13 19 0 52
GeneDx 2 1 7 1 23 0 34
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 7 4 6 0 17
Athena Diagnostics Inc 0 0 2 4 7 0 13
OMIM 11 0 0 0 0 1 11
PreventionGenetics, PreventionGenetics 0 0 0 0 9 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 5 0 0 0 7
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 7 0 0 0 7
SIB Swiss Institute of Bioinformatics 0 4 1 0 0 0 5
Baylor Genetics 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology,Semnan University 1 0 0 0 0 0 1

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