ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.516G>A (p.Ser172=)

dbSNP: rs199924228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199651 SCV002356494 likely benign Noonan syndrome 2022-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045548 SCV005025262 likely benign not specified 2023-10-19 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 RCV003941330 SCV004759550 likely benign RRAS-related disorder 2019-10-14 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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