ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)

dbSNP: rs1594982548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223414 SCV003918964 pathogenic Noonan syndrome 9 2023-04-20 criteria provided, single submitter research
Yale Center for Mendelian Genomics, Yale University RCV000845123 SCV000987059 likely pathogenic Noonan syndrome 2015-08-03 no assertion criteria provided literature only

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