ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.201G>A (p.Thr67=)

gnomAD frequency: 0.00001  dbSNP: rs1421164782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559966 SCV000629004 likely benign Noonan syndrome 2023-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023773 SCV002720352 likely benign not specified 2020-03-26 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.

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