ClinVar Miner

Variants in gene combination CHM, LOC129391306

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Minimum submission review status: Collection method:
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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
16 4 25 27 5 76

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 0 21 27 5 62
Choroideremia 6 2 3 1 2 14
Retinal dystrophy 3 2 2 0 1 8
Inborn genetic diseases 0 0 6 0 0 6
CHM-related disorder 0 0 0 1 0 1
not specified 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 8 0 20 27 5 60
Ambry Genetics 0 0 6 0 0 6
Natera, Inc. 0 0 2 1 2 5
Blueprint Genetics 1 2 1 0 0 4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 3 0 1 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 3
GeneDx 1 0 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 2
CeGaT Center for Human Genetics Tuebingen 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1
Dept Of Ophthalmology, Nagoya University 0 0 0 0 1 1

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