ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter)

dbSNP: rs1566784441
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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 RCV003992364 SCV004810823 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing MAGEL2: PVS1:Strong, PM1, PM2, PP4, PS4:Supporting
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences RCV000754907 SCV000784668 pathogenic Schaaf-Yang syndrome 2018-06-25 no assertion criteria provided clinical testing

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