Variants studied for Noonan syndrome 4

Minimum submission review status:		Collection method:
Minimum conflict level:
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
6	1	7	0	0	2	16

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
SOS1	6	1	7	2	16

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	not provided	total
OMIM	5	0	0	0	5
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)	0	0	0	2	2
Phosphorus, Inc.	0	0	2	0	2
Center for Human Genetics, Inc	1	0	0	0	1
Institute of Human Genetics,University of Goettingen	0	0	1	0	1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children	0	1	0	0	1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital	0	0	1	0	1
Center of Genomic medicine, Geneva,University Hospital of Geneva	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	0	0	1	0	1
GenePathDx,Causeway Health Care Private Ltd	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	0	0	1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	0	0	1	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	1	0	1

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