Variants studied for Charcot-Marie-Tooth disease axonal type 2C

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
23	17	488	345	59	5	900

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
TRPV4	23	16	485	345	59	5	896
MIR4497, TRPV4	0	0	3	0	0	0	3
NEFH	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 26

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	23	11	451	327	50	0	862
Illumina Laboratory Services, Illumina	0	0	47	27	30	0	104
Fulgent Genetics, Fulgent Genetics	1	0	8	2	0	0	11
OMIM	8	0	0	0	0	0	8
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	1	5	0	0	0	8
Mendelics	0	0	0	2	2	0	4
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Athena Diagnostics Inc	2	0	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Baylor Genetics	1	0	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	1	0	0	0	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	0	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	1	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo	1	0	0	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	0	0	1

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