Variants studied for Lipoic acid synthetase deficiency

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
20	8	177	128	11	4	339

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LIAS	20	8	151	123	11	4	308
LIAS, LOC112939935	0	0	22	5	0	0	27
APBB2, CHRNA9, FAM114A1, KLB, KLHL5, LIAS, LIMCH1, N4BP2, NSUN7, PDS5A, PHOX2B, RBM47, RFC1, RHOH, RPL9, SMIM14, TLR1, TLR10, TLR6, TMEM156, UBE2K, UCHL1, UGDH, WDR19	0	0	1	0	0	0	1
LIAS, LOC112939935, LOC129992453	0	0	1	0	0	0	1
LIAS, RPL9	0	0	1	0	0	0	1
LIAS, RPL9, UGDH	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	16	4	174	128	11	0	333
OMIM	5	0	0	0	0	0	5
Baylor Genetics	0	0	3	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	1	0	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	1	0	0	0	1
DASA	1	0	0	0	0	0	1

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