ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1005T>C (p.Tyr335=)

gnomAD frequency: 0.00003  dbSNP: rs753698896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255462 SCV001431868 likely benign not specified 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV001403694 SCV001605571 likely benign Noonan syndrome 9 2021-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409252 SCV002723350 likely benign Cardiovascular phenotype 2019-09-27 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.
Genome-Nilou Lab RCV001403694 SCV002763101 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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