ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)

gnomAD frequency: 0.00001  dbSNP: rs780152724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451905 SCV001655546 likely benign Noonan syndrome 9 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414082 SCV002710945 likely benign Cardiovascular phenotype 2020-01-02 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 RCV001451905 SCV002763064 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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