ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.600G>A (p.Pro200=)

gnomAD frequency: 0.00015  dbSNP: rs183538580
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557852 SCV000629010 likely benign Noonan syndrome 2023-11-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174704 SCV001337963 benign not specified 2020-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001174704 SCV002656601 likely benign not specified 2022-05-02 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.
PreventionGenetics, part of Exact Sciences RCV003942742 SCV004764655 likely benign RRAS-related disorder 2019-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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