ClinVar Miner

Submissions for variant NM_018002.3(OXR1):c.1324del (p.Ser442fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center,University of Montreal RCV000856834 SCV000998931 likely pathogenic Seizures; Intellectual disability; Cerebellar atrophy 2019-05-31 no assertion criteria provided research
OMIM RCV000993805 SCV001146973 pathogenic Congenital cerebellar hypoplasia 2020-01-23 no assertion criteria provided literature only

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