ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003312732 SCV004010825 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing APTX: PVS1:Strong, PM2, PM3, PP4:Moderate
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003484415 SCV004232393 pathogenic Epilepsy 2024-01-11 criteria provided, single submitter clinical testing

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