ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)

dbSNP: rs1598088235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995852 SCV001150232 pathogenic Smith-Magenis syndrome 2019-09-18 criteria provided, single submitter clinical testing

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