ClinVar Miner

Variants in gene ADAM9

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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
24 10 246 221 41 511

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 4 183 215 40 446
Cone-rod dystrophy 9 9 5 51 8 5 78
Inborn genetic diseases 0 0 42 1 0 43
ADAM9-related disorder 0 0 1 8 2 11
not specified 0 0 0 4 3 7
Cone-Rod Dystrophy, Recessive 0 0 3 0 1 4
Cone-rod dystrophy 4 0 0 0 0 4
Retinal dystrophy 1 1 2 0 0 4
Retinitis pigmentosa 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 9 3 178 207 28 425
Illumina Laboratory Services, Illumina 0 1 52 8 4 65
Ambry Genetics 0 0 42 1 0 43
GeneDx 2 0 0 5 16 23
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 8 19
PreventionGenetics, part of Exact Sciences 0 0 1 9 3 13
Eurofins Ntd Llc (ga) 0 0 5 3 0 8
OMIM 5 0 0 0 0 5
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 1 2 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 4 0 0 0 0 4
Clinical Genetics, Academic Medical Center 0 0 1 0 2 3
CeGaT Center for Human Genetics Tuebingen 1 0 0 1 1 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Centre for Human Genetics, University of Kinshasa 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 0 0 0 1

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