ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1620C>T (p.His540=) (rs587781132)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157005 SCV000206730 likely benign Noonan syndrome 2013-03-14 no assertion criteria provided clinical testing
GeneDx RCV000127656 SCV000171235 benign not specified 2013-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000543306 SCV000659036 likely benign Rasopathy 2017-06-28 criteria provided, single submitter clinical testing

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