ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1680C>T (p.Leu560=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003810846 SCV004611312 likely benign RASopathy 2023-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542281 SCV004758261 likely benign PTPN11-related disorder 2023-08-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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