ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.54A>T (p.Gly18=)

dbSNP: rs571103858
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878196 SCV001021060 benign Noonan syndrome 2023-12-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193591 SCV001362521 benign not specified 2019-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001720267 SCV001947273 benign not provided 2021-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346039 SCV002651037 likely benign Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001720267 SCV004140444 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing RRAS: BP4, BP7, BS2

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