ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.700C>T (p.Leu234=)

gnomAD frequency: 0.00053  dbSNP: rs145848231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873915 SCV001016010 benign Noonan syndrome 9 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001709695 SCV001937016 benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363287 SCV002666788 benign Cardiovascular phenotype 2021-02-08 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000873915 SCV002763119 benign Noonan syndrome 9 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469311 SCV002766337 benign not specified 2022-11-19 criteria provided, single submitter clinical testing

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