ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) (rs267607042)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850599 SCV000992826 pathogenic Schinzel-Giedion syndrome; Mental retardation, autosomal dominant 29 2017-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727534 SCV000709509 pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000001087 SCV000194891 pathogenic Schinzel-Giedion syndrome 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000001087 SCV000021237 pathogenic Schinzel-Giedion syndrome 2010-06-01 no assertion criteria provided literature only

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