Variants studied for Neutral lipid storage myopathy

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
23	5	298	223	24	2	542

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PNPLA2	20	4	265	203	23	1	487
LOC130005097, PNPLA2	3	1	29	20	1	1	51
LOC121392887, PNPLA2	0	0	3	0	0	0	3
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, PIDD1, PNPLA2, RASSF7, RPLP2, SCT, SLC25A22, TALDO1, TMEM80	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	16	3	222	214	20	0	475
Illumina Laboratory Services, Illumina	0	0	63	12	15	0	90
Revvity Omics, Revvity	3	0	58	1	0	0	62
OMIM	11	0	0	0	0	0	11
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	1	1	2	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	3	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Baylor Genetics	0	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	0	1
School of Computer Science, University of Waterloo	0	1	0	0	0	0	1

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