Variants studied for Autosomal recessive cutis laxa type 2B

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	8	2	0	2	1	29

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
PYCR1	16	8	1	2	1	28
LOC130061991, PYCR1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	7	0	0	0	0	7
Baylor Genetics	2	0	2	0	0	4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	4	0	0	0	0	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	2	1	0	0	0	3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	2	0	0	0	0	2
Centogene AG - the Rare Disease Company	1	1	0	0	0	2
Division of Biology and Genetics, University of Brescia	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	2	0	2
3billion	0	2	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	1	0	0	0	1

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