ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)

dbSNP: rs797045795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194018 SCV000248270 uncertain significance not specified 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV002468937 SCV000491586 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000709916 SCV000840258 not provided Noonan syndrome 6 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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