ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3573T>G (p.Val1191=)

gnomAD frequency: 0.00001  dbSNP: rs756940411
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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 RCV001269154 SCV001448421 likely benign not specified 2020-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001490648 SCV001695218 likely benign Noonan syndrome 9 2019-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451633 SCV002615631 likely benign Cardiovascular phenotype 2021-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV001490648 SCV002762986 likely benign Noonan syndrome 9 criteria provided, single submitter clinical testing

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