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

Minimum submission review status:		Collection method:
Minimum conflict level:
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
22	12	101	37	29	197

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
IGHMBP2	22	12	101	37	29	197

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	15	5	99	37	29	185
OMIM	6	0	0	0	0	6
Fulgent Genetics	1	1	3	0	0	5
Department of Medical Genetics,Oslo University Hospital	0	3	0	0	0	3
Institute of Human Genetics,Cologne University	1	1	0	0	0	2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	1	1	0	0	0	2
Biochemistry Laboratory of CDMU,Chengde Medical University	1	1	0	0	0	2
Integrated Genetics/Laboratory Corporation of America	1	0	0	0	0	1

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