ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)

dbSNP: rs868208063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856764 SCV000999318 pathogenic Noonan syndrome 1 criteria provided, single submitter clinical testing

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