ClinVar Miner

Variants in gene ATL3

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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
2 1 261 193 41 471

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuropathy, hereditary sensory, type 1F 2 1 234 151 28 414
Inborn genetic diseases 0 0 51 23 1 75
not provided 0 0 25 25 22 68
ATL3-related disorder 0 0 0 5 1 6
not specified 0 0 3 2 1 6
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 233 152 26 411
Ambry Genetics 0 0 51 23 1 75
GeneDx 0 0 15 18 19 52
CeGaT Center for Human Genetics Tuebingen 0 0 6 6 2 14
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 7 13
Genome-Nilou Lab 0 0 0 0 11 11
PreventionGenetics, part of Exact Sciences 0 0 0 5 1 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 2 0 5
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 0 1 0 1
Inherited Neuropathy Consortium 0 0 1 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

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