Variants studied for Lethal congenital contracture syndrome 7

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	4	3	0	3	18

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
CNTNAP1	9	4	3	2	17
CNTNAP1, LOC125177481	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	4	0	0	0	4
Genome-Nilou Lab	0	0	0	3	3
Baylor Genetics	1	0	1	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	2	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	0	0	0	2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	1	0	0	0	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	0	1
Christopher A. Walsh Laboratory, Boston Children's Hospital	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1

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