ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)

dbSNP: rs527236033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000132731 SCV000187660 pathogenic Smith-Magenis syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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