ClinVar Miner

Submissions for variant NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs)

dbSNP: rs1565372210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCSD Department of Pediatrics, University of California, San Diego RCV000770888 SCV000900034 pathogenic 11q partial monosomy syndrome 2017-08-11 no assertion criteria provided literature only The patient has multiple features of Jacobsen syndrome including congenital heart disease, facial dysmorphism, developmental delay, ADHD.

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