Variants studied for Charcot-Marie-Tooth disease type 4A

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	not provided	total
68	20	173	89	9	1	344

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GDAP1	60	19	150	74	4	1	293
GDAP1, LOC130000622	8	1	20	15	5	0	48
GDAP1, JPH1, LY96, TMEM70	0	0	2	0	0	0	2
GDAP1, JPH1, LOC126860420, LOC129390012, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	64	14	150	89	7	0	324
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	20	0	0	0	20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	3	0	0	0	0	5
CMT Laboratory, Bogazici University	4	0	0	0	0	0	4
OMIM	3	0	0	0	0	0	3
Mendelics	1	1	1	0	0	0	3
3billion	2	0	1	0	0	0	3
Baylor Genetics	1	0	1	0	0	0	2
MGZ Medical Genetics Center	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	0	0	0	2
Athena Diagnostics	1	0	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM	1	0	0	0	0	0	1
DASA	1	0	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1

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