Variants studied for Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S

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
111	25	373	528	51	4	1083

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
IGHMBP2	108	24	359	504	46	4	1036
IGHMBP2, LOC126861245	3	1	14	24	5	0	47

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	111	22	372	526	51	0	1082
Fulgent Genetics, Fulgent Genetics	1	1	4	2	0	0	8
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	4	4
Suma Genomics	1	1	0	0	0	0	2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	0	1

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