ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.624A>G (p.Thr208=) (rs864622409)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205330 SCV000260508 likely benign Rasopathy 2015-09-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615915 SCV000731729 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing p.Thr208Thr in exon 5 of PTPN11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.

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