ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)

dbSNP: rs587777169
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Total submissions: 2
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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 RCV002251979 SCV002523961 pathogenic See cases 2021-04-06 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2, PP5
OMIM RCV000087152 SCV000120014 pathogenic Warburg micro syndrome 2 2013-05-01 no assertion criteria provided literature only

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