ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225918 SCV003807411 uncertain significance Smith-Magenis syndrome 2022-10-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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