ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.619A>T (p.Thr207Ser)

dbSNP: rs1434136369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196096 SCV001366563 uncertain significance Smith-Magenis syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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