ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1161C>T (p.Asn387=)

gnomAD frequency: 0.00001  dbSNP: rs727505180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156668 SCV000206389 likely benign not specified 2014-07-11 criteria provided, single submitter clinical testing Asn387Asn in exon 10 of PTPN11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV001469624 SCV001673704 likely benign RASopathy 2023-12-29 criteria provided, single submitter clinical testing

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