Variants studied for Nemaline myopathy 6

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
4	3	305	182	78	1	546

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
KBTBD13	4	2	304	182	78	1	544
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609	0	1	0	0	0	0	1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	1	0	263	176	58	0	498
Illumina Laboratory Services, Illumina	0	0	33	8	36	0	77
Revvity Omics, Revvity	0	0	10	0	0	0	10
Genome-Nilou Lab	0	0	0	0	4	0	4
OMIM	3	0	0	0	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	2	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Mendelics	0	0	0	0	2	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	2
NeuroMeGen, Hospital Clinico Santiago de Compostela	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1

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