ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3251_3252del (p.Leu1084fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV005002091 SCV005627655 pathogenic Smith-Magenis syndrome 2024-12-10 criteria provided, single submitter clinical testing

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