ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7036G>C (p.Val2346Leu)

dbSNP: rs1242335203
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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 RCV002244161 SCV002512486 uncertain significance Familial acute necrotizing encephalopathy 2022-02-14 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting

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