ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) (rs1555194026)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680027 SCV000807466 uncertain significance Rasopathy 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in an 8-year-old female with global delays, hypotonia, failure to thrive, short stature, thin corpus callosum, epilepsy, small optic nerve, ptosis, coarse facies, joint contractures, hypothyroidism
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505640 SCV000599968 likely pathogenic Noonan syndrome 3 2014-08-25 no assertion criteria provided research Likely pathogenicity based on finding it once in this study de novo in a 8-year-old female with plexiform neurofibroma, hypertelorism, ptosis, pulmonic stenosis, scoliosis, skeletal anomalies, developmental delay

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