ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2329del (p.Asp777fs)

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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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003227542 SCV003924048 pathogenic Smith-Magenis syndrome 2023-05-11 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. de novo; ACMG: PVS1, PS2, PM2 Selected ACMG criteria: Pathogenic (I):PM2;PS2;PVS1

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