Variants in gene LTBP1 - 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	total
4	3	189	27	13	235

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	169	6	0	175
not provided	0	1	21	20	12	54
Cutis laxa, autosomal recessive, type 2E	4	2	2	0	0	7
LTBP1-related disorder	0	0	0	1	1	2
Congenital heart disease	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	168	6	0	174
CeGaT Center for Human Genetics Tuebingen	0	0	19	17	2	38
Labcorp Genetics (formerly Invitae), Labcorp	0	1	0	4	11	16
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	10	11
OMIM	4	0	0	0	0	4
PreventionGenetics, part of Exact Sciences	0	0	0	1	1	2
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	2	0	0	2
3billion	0	2	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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