Variants studied for nemaline myopathy 9

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
21	5	129	85	15	252

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
KLHL41	21	5	129	85	15	252

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	16	2	123	84	15	240
OMIM	5	0	0	0	0	5
Revvity Omics, Revvity	0	2	3	0	0	5
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Mendelics	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	0	1

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