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)

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
21	23	678	572	59	1	1285

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	21	22	671	567	58	1	1271
LOC130005663, LRP4	0	1	4	5	0	0	10
LOC130005664, LRP4	0	0	3	0	1	0	4

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	13	7	437	553	47	0	1057
Fulgent Genetics, Fulgent Genetics	1	11	295	36	2	0	345
Illumina Laboratory Services, Illumina	0	0	116	13	21	0	150
Genome-Nilou Lab	0	0	0	0	8	0	8
OMIM	8	0	0	0	0	0	8
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	0	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	2	0	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
Clinical Genetics, Charité Universitaetsmedizin Berlin	1	0	0	0	0	0	1
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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