ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) (rs267607040)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000001090 SCV000194893 pathogenic Schinzel-Giedion syndrome 2013-09-19 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000001090 SCV001468659 pathogenic Schinzel-Giedion syndrome 2020-12-07 criteria provided, single submitter research ACMG codes:PS4, PM1, PM2, PP3
GeneDx RCV001659675 SCV001872827 pathogenic not provided 2021-08-06 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (significant increase in cell proliferation) (Piazza et al., 2013); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23222956, 29435294, 29549983, 33822276, 31692115, 28419882, 28881700, 28209656, 28346496, Neupauerova2019[casereport], 18398855, 32460883, 29333303, 23400866, 21371013, 20436468, 26188272)
OMIM RCV000001090 SCV000021240 pathogenic Schinzel-Giedion syndrome 2011-04-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442178 SCV000505749 not provided Chronic myelogenous leukemia, BCR-ABL1 positive 2016-03-10 no assertion provided literature only

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