ClinVar Miner

Variants in gene SOS2

Minimum submission review status: Collection method:
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Gene type:
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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
3 4 65 54 77 1 197

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 0 20 22 65 0 108
Noonan syndrome 9 2 1 47 23 16 0 89
not specified 0 0 3 11 15 0 29
Noonan syndrome 0 3 0 0 0 1 4

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 0 19 31 72 0 123
Invitae 0 1 43 23 16 0 83
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 18 0 18
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 2 1 0 6
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Blueprint Genetics, 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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