Variants studied for Lethal tight skin contracture syndrome

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
9	0	78	13	14	114

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
LMNA	0	37	8	6	51
ZMPSTE24	7	32	4	7	50
LOC129930253, ZMPSTE24	2	5	0	0	7
LMNA, LOC126805877	0	2	1	0	3
LOC129930252, ZMPSTE24	0	2	0	0	2
LMNA, LOC129931597	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	76	13	14	103
OMIM	6	0	0	0	6
Baylor Genetics	0	3	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	2
MGZ Medical Genetics Center	1	0	0	0	1
Mendelics	1	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	1	0	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	1
Genetic Diagnostics Department, Viafet Genomics Laboratory	1	0	0	0	1

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