Variants in gene combination LOC112872299, RAB7A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
0	0	18	16	0	31

Condition and significance breakdown #

Total conditions: 6

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Condition	uncertain significance	likely benign	total
Charcot-Marie-Tooth disease type 2B	14	14	28
Inborn genetic diseases	4	4	8
not provided	2	0	2
Charcot-Marie-Tooth disease	0	1	1
Hereditary sodium channelopathy-related small fibers neuropathy	1	0	1
RAB7A-related disorder	0	1	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	uncertain significance	likely benign	total
Labcorp Genetics (formerly Invitae), Labcorp	13	14	27
Ambry Genetics	4	4	8
Athena Diagnostics	2	0	2
Illumina Laboratory Services, Illumina	1	1	2
Molecular Genetics Laboratory, London Health Sciences Centre	0	1	1
PreventionGenetics, part of Exact Sciences	0	1	1
Breda Genetics srl	1	0	1
Genesis Genome Database	1	0	1

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