ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1785dup (p.Arg596fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290337 SCV002580386 pathogenic Smith-Magenis syndrome 2022-05-12 criteria provided, single submitter clinical testing

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