ClinVar Miner

Variants in gene RAB7A

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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 not provided total
6 1 81 74 29 4 174

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2B 6 1 62 52 18 0 138
not provided 0 0 7 21 20 4 49
Charcot-Marie-Tooth disease 0 0 7 6 2 0 15
Inborn genetic diseases 0 0 3 8 0 0 11
not specified 0 0 1 6 3 0 10
Charcot-Marie-Tooth disease type 2 0 0 5 1 0 0 6
RAB7A-related disorder 0 0 0 4 0 0 4
Hereditary sodium channelopathy-related small fibers neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 26 49 5 0 85
Illumina Laboratory Services, Illumina 0 0 40 3 17 0 60
GeneDx 0 0 4 23 14 0 41
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 9 0 14
Ambry Genetics 0 0 3 8 0 0 11
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 1 6 2 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 1 3 3 0 7
Athena Diagnostics 0 0 2 1 3 0 6
Inherited Neuropathy Consortium 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
PreventionGenetics, part of Exact Sciences 0 0 0 4 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
Genesis Genome Database 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
3billion 0 0 1 0 0 0 1

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