ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.1040+1G>T

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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 RCV003130900 SCV003808001 likely pathogenic Warburg micro syndrome 2 2022-04-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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