Variants studied for Lethal multiple pterygium 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
50	17	518	305	58	911

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CHRND	20	10	252	158	25	444
CHRNA1	19	6	205	145	19	378
CHRNG	9	1	29	2	4	45
CHRNG, TIGD1	1	0	30	0	6	37
CHRND, CHRNG	0	0	0	0	4	4
CHRNA1, LOC122861243, LOC129935149, LOC129935150	0	0	1	0	0	1
CHRNA1, LOC129935149, LOC129935150	1	0	0	0	0	1
CHRND, CHRNG, LOC129935864, TIGD1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	36	11	381	294	34	756
Illumina Laboratory Services, Illumina	0	0	145	11	29	185
OMIM	9	0	0	0	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	5	4	0	0	0	9
Baylor Genetics	3	0	3	0	0	6
Genome-Nilou Lab	0	0	0	0	4	4
3billion	3	0	1	0	0	4
Mendelics	0	1	0	0	2	3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	0	0	3	0	0	3
Institute of Human Genetics, Cologne University	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	0	0	0	1

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