ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1379+20C>T

gnomAD frequency: 0.00047  dbSNP: rs184743462
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235034 SCV005881138 benign Metachondromatosis 2025-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315856 SCV004017222 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505096 SCV002806687 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381441 SCV002699531 likely benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055762 SCV002444123 benign RASopathy 2026-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812106 SCV001160202 benign not provided 2020-04-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000127653 SCV000309202 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000127653 SCV000171232 benign not specified 2013-06-17 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.

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