Variants studied for Neuronopathy, distal hereditary motor, autosomal recessive 5

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	total
11	10	107	96	8	230

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	total
DNAJB2	10	10	106	96	7	227
DNAJB2, LOC129935648	1	0	0	0	1	2
DES, DES-LCR, DNAJB2, DNPEP, LOC120977025, LOC126806517, LOC129935649, LOC129935650, LOC129935651, LOC129935652, LOC129935653, LOC129935654, MIR153-1, PTPRN, RESP18	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	8	4	103	96	7	218
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	2	1	5
OMIM	3	0	0	0	0	3
Revvity Omics, Revvity	0	1	2	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	1	0	0	0	2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	2	0	0	0	2
MGZ Medical Genetics Center	0	1	0	0	0	1
Mendelics	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Paisan-Ruiz Laboratory, Icahn School of Medicine at Mount Sinai	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1

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