ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3832T>C (p.Leu1278=)

gnomAD frequency: 0.00001  dbSNP: rs750354913
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Total submissions: 5
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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 RCV000780754 SCV000918267 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067373 SCV002386973 likely benign RASopathy 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360900 SCV002623869 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: 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 RCV002468046 SCV002763194 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468045 SCV002763195 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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