Variants in gene ISCU - ClinVar Miner

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
2	1	56	71	37	2	159

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
not provided	1	1	40	63	35	0	136
Inborn genetic diseases	0	0	20	0	0	0	20
Hereditary myopathy with lactic acidosis due to ISCU deficiency	2	0	6	2	4	2	13
not specified	0	0	0	7	6	0	13
ISCU-related disorder	0	0	0	8	1	0	9
Myopathy	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	1	1	36	51	10	0	99
GeneDx	0	0	4	16	35	0	55
Breakthrough Genomics, Breakthrough Genomics	0	0	0	4	22	0	26
Ambry Genetics	0	0	20	0	0	0	20
CeGaT Center for Human Genetics Tuebingen	0	0	1	9	0	0	10
PreventionGenetics, part of Exact Sciences	0	0	0	8	1	0	9
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	3	3	0	8
Revvity Omics, Revvity	0	0	4	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	0	2	1	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
OMIM	2	0	0	0	0	0	2
GeneReviews	0	0	0	0	0	2	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1

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