Variants studied for Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

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
23	11	13	0	5	51

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
NALCN	23	11	12	5	50
LOC126861831, NALCN	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Yale Center for Mendelian Genomics, Yale University	13	0	0	0	13
Genomic Research Center, Shahid Beheshti University of Medical Sciences	3	0	2	0	5
New York Genome Center	1	2	2	0	5
Genome-Nilou Lab	0	0	0	5	5
OMIM	4	0	0	0	4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	2	1	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	1	0	3
3billion	3	0	0	0	3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	1	1	0	3
Baylor Genetics	0	1	1	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	2
Undiagnosed Diseases Network, NIH	1	1	0	0	2
Institute of Human Genetics, University of Goettingen	0	1	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	1
Institute of Immunology and Genetics Kaiserslautern	0	0	1	0	1

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