ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of genome editing, Research Centre for Medical Genetics RCV003329102 SCV004035910 likely pathogenic Smith-Magenis syndrome 2023-09-20 criteria provided, single submitter clinical testing PS2, PM2, PP3

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