ClinVar Miner

Submissions for variant NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)

dbSNP: rs1554817910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000576559 SCV000677110 likely pathogenic not specified 2019-03-29 criteria provided, single submitter research
OMIM RCV000856610 SCV000999144 pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 2019-11-25 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291147 SCV001479523 likely pathogenic Syndromic neurodevelopmental disorder no assertion criteria provided research

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