ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.177C>T (p.Ala59=)

gnomAD frequency: 0.00010  dbSNP: rs730880456
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157907 SCV000207838 benign not specified 2014-10-22 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.
PreventionGenetics, part of Exact Sciences RCV000157907 SCV000311011 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000470354 SCV000560887 likely benign Costello syndrome 2024-01-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813409 SCV002060509 likely benign Noonan syndrome and Noonan-related syndrome 2020-09-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258815 SCV002537970 likely benign Hereditary cancer-predisposing syndrome 2020-06-08 criteria provided, single submitter curation
Ambry Genetics RCV002408711 SCV002714876 likely benign Cardiovascular phenotype 2022-03-04 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.
CeGaT Center for Human Genetics Tuebingen RCV003390854 SCV004134987 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing HRAS: BP4, BP7

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