ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.174C>T (p.Tyr58=)

gnomAD frequency: 0.00055  dbSNP: rs145282813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632784 SCV000753970 likely benign Noonan syndrome 2024-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264567 SCV001442789 benign not specified 2020-10-08 criteria provided, single submitter clinical testing
GeneDx RCV001756048 SCV002006849 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001264567 SCV002712224 likely benign not specified 2022-03-21 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.
Breakthrough Genomics, Breakthrough Genomics RCV001756048 SCV005209870 likely benign not provided criteria provided, single submitter not provided

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