ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1263T>C (p.Asn421=)

dbSNP: rs369267864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510819 SCV001717957 benign Noonan syndrome 9 2023-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001526956 SCV001737729 benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409117 SCV002675439 likely benign Cardiovascular phenotype 2022-05-30 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 RCV001510819 SCV002763090 benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510819 SCV002802006 likely benign Noonan syndrome 9 2021-09-21 criteria provided, single submitter clinical testing

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