ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1507_1523dup (p.His509fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005235852 SCV005881456 pathogenic Smith-Magenis syndrome 2025-03-12 criteria provided, single submitter clinical testing ACMG criteria used: PVS1, PS2_moderate, PM2

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