ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.2644A>T (p.Thr882Ser) (rs1332140763)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626878 SCV000747581 uncertain significance Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626879 SCV000747582 uncertain significance Hyperactivity; Seizures; Deeply set eye; Intellectual disability; Poor speech; Postnatal microcephaly; Exostoses 2017-01-01 criteria provided, single submitter clinical testing

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