ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)

dbSNP: rs398122416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000074485 SCV000807248 pathogenic Schaaf-Yang syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in an 8-year-old male with intelectual disability, autistic features, infantile hypotonia, almond-shaped eyes, morbid obesity, myopia, cryptorchidism. This patient has been reported (PMID:24076603).
OMIM RCV000074485 SCV000108570 pathogenic Schaaf-Yang syndrome 2013-11-01 no assertion criteria provided literature only

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