ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)

gnomAD frequency: 0.00002  dbSNP: rs886041814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000397079 SCV000330579 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002487177 SCV002794051 uncertain significance Fibromatosis, gingival, 1; Noonan syndrome 4 2021-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519060 SCV003274154 likely benign RASopathy 2024-03-20 criteria provided, single submitter clinical testing

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