Variants studied for Autosomal recessive congenital ichthyosis 6

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
28	2	49	8	14	100

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	total
NIPAL4	27	2	44	6	13	91
LOC129995124, NIPAL4	1	0	3	1	1	6
NIPAL4, NIPAL4-DT	0	0	2	1	0	3

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	47	8	14	70
Institute for Human Genetics, University Medical Center Freiburg	25	0	0	0	0	25
OMIM	4	0	0	0	0	4
Baylor Genetics	1	0	1	0	0	2
Revvity Omics, Revvity	1	1	0	0	0	2
Uitto Lab, Thomas Jefferson University	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
Genomics England Pilot Project, Genomics England	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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