Variants studied for Cenani-Lenz syndactyly 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	not provided	total
16	11	526	442	59	1	997

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LRP4	16	11	518	439	57	1	984
LOC130005663, LRP4	0	0	4	3	0	0	7
LOC130005664, LRP4	0	0	4	0	2	0	6

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	8	5	426	418	46	0	903
Illumina Laboratory Services, Illumina	0	0	122	18	22	0	162
Fulgent Genetics, Fulgent Genetics	1	3	102	36	2	0	144
OMIM	8	0	0	0	0	0	8
Genome-Nilou Lab	0	0	0	0	8	0	8
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Clinical Genetics, Charité Universitaetsmedizin Berlin	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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