ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.372G>A (p.Thr124=)

gnomAD frequency: 0.00001  dbSNP: rs368978550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953819 SCV001100409 likely benign Noonan syndrome 2023-05-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328444 SCV001519580 benign not specified 2021-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346161 SCV002622026 likely benign Inborn genetic diseases 2021-01-04 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.

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