ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.957C>T (p.Asn319=)

gnomAD frequency: 0.00001  dbSNP: rs771407775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752628 SCV001997534 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico splice algorithms do not predict an effect on gene splicing; nucleotide is conserved in mammals
Ambry Genetics RCV002386529 SCV002695634 likely benign Cardiovascular phenotype 2021-05-06 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.
Fulgent Genetics, Fulgent Genetics RCV002477970 SCV002780490 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2022-01-07 criteria provided, single submitter clinical testing
Invitae RCV003539405 SCV004343882 likely benign RASopathy 2023-03-23 criteria provided, single submitter clinical testing

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