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Results: 5

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PTPN11Noonan's syndromeUncertain significance
(Aug 18, 2011)
classified by single submitter12112488429
2.
PTPN11Noonan's syndrome, AllHighlyPenetrant, Rasopathy
GMAF:0.00090(A)conflicting data from submitters
(Jun 14, 2012)
classified by multiple submitters12112454556
3.
PTPN11Noonan's syndrome, AllHighlyPenetrant, not provided
GO-ESP:0.02814(T)
GMAF:0.01880(T)
Benign/Likely benign
(Mar 1, 2013)
classified by multiple submitters12112450435
4.
PTPN11LEOPARD syndrome, LEOPARD syndrome 1, Noonan's syndrome,
not provided, Rasopathy
Pathogenic/Likely pathogenic
(Oct 4, 2013)
classified by multiple submitters12112473023
5.
PTPN11Noonan syndrome 1, Juvenile myelomonocytic leukemia, Noonan's syndrome,
Rasopathy
Pathogenic/Likely pathogenic
(Oct 4, 2013)
classified by multiple submitters12112450398

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