ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter)

dbSNP: rs866419580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences RCV000754908 SCV000784670 pathogenic Schaaf-Yang syndrome 2018-06-25 no assertion criteria provided clinical testing

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