ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)

gnomAD frequency: 0.00001  dbSNP: rs727505379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159180 SCV000209126 uncertain significance not provided 2023-06-12 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156973 SCV000206695 uncertain significance Noonan syndrome 2012-06-15 no assertion criteria provided clinical testing

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