ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1059G>A (p.Glu353=)

gnomAD frequency: 0.00001  dbSNP: rs1231657921
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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 RCV001260407 SCV001437385 likely benign not specified 2020-09-06 criteria provided, single submitter clinical testing
Invitae RCV002069374 SCV002423820 likely benign Noonan syndrome 9 2021-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411920 SCV002716193 likely benign Cardiovascular phenotype 2022-06-06 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 RCV002069374 SCV002763098 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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