Variants studied for Noonan syndrome 9

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
8	5	565	529	91	1145

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SOS2	8	5	554	519	90	1123
LOC130055588, SOS2	0	0	9	10	1	20
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2	0	0	1	0	0	1
L2HGDH, SOS2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 31

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	6	1	509	520	70	1106
Genome-Nilou Lab	3	2	61	64	55	185
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	3	8	13	24
Revvity Omics, Revvity	0	0	13	0	0	13
Fulgent Genetics, Fulgent Genetics	0	0	8	4	0	12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	8	0	0	8
Department of Human Genetics, University Hospital Magdeburg	6	1	0	0	0	7
New York Genome Center	0	0	5	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	3	0	0	4
Illumina Laboratory Services, Illumina	0	0	4	0	0	4
Baylor Genetics	0	0	3	0	0	3
OMIM	2	0	0	0	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	2	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	1	0	0	2
Clinical Genomics Laboratory, Stanford Medicine	0	0	2	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	1
Mendelics	0	0	0	1	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Phosphorus, Inc.	0	0	1	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	1	0	0	1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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