Variants studied for Charcot-Marie-Tooth disease type 1C

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
8	4	125	48	24	9	205

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LITAF	8	4	124	48	24	8	203
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7	0	0	1	0	0	0	1
NEFL	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	5	2	95	45	6	0	153
Illumina Laboratory Services, Illumina	0	0	34	6	21	0	61
GeneReviews	0	0	0	0	0	9	9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	1	0	1	1	3	0	6
OMIM	5	0	0	0	0	0	5
Athena Diagnostics	0	0	0	0	1	0	1
Revvity Omics, Revvity	0	0	1	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	0	1
Gemeinschaftspraxis fuer Humangenetik Dresden	0	1	0	0	0	0	1

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