ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) (rs1555350397)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627008 SCV000747711 likely pathogenic Hypotelorism; Low-set ears; Hypertonia; Nystagmus; Pointed chin; Protruding ear; Horizontal nystagmus; Anxiety; Phonophobia 2017-01-01 criteria provided, single submitter clinical testing

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