ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.890C>T (p.Ser297Leu)

gnomAD frequency: 0.00001  dbSNP: rs779162761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323255 SCV000339653 uncertain significance not provided 2016-02-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813446 SCV002060904 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467718 SCV002763486 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467717 SCV002763487 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
GeneDx RCV000323255 SCV005369552 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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