ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.294A>G (p.Lys98=)

gnomAD frequency: 0.00027  dbSNP: rs149713664
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608019 SCV000716390 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608019 SCV001361622 benign not specified 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV001431833 SCV001634594 likely benign Noonan syndrome 9 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813518 SCV002060670 benign Noonan syndrome and Noonan-related syndrome 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438559 SCV002749305 likely benign Cardiovascular phenotype 2022-03-03 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 RCV001431833 SCV002763145 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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