ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.2302+1G>A (rs1555975458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Cytogenetics and Genome Research,KU Leuven RCV000618847 SCV000611619 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2017-11-01 criteria provided, single submitter research de novo variant in individual with moderate microcephaly, delayed psychomotor development

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