ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2625A>T (p.Ala875=)

gnomAD frequency: 0.00013  dbSNP: rs761442415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546026 SCV000656019 benign Noonan syndrome 9 2024-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193057 SCV001361621 benign not specified 2019-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431705 SCV002743122 benign Cardiovascular phenotype 2019-12-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 RCV000546026 SCV002763032 benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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