ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.994T>C (p.Tyr332His) (rs1554662194)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000499409 SCV000598122 uncertain significance Epilepsy, familial temporal lobe, 5 2017-02-06 criteria provided, single submitter clinical testing This variant (VUS in CPA6) was identified in a young patient with development delay, epilepsy and microcephaly, in combination with another pathogenic variant in DYRK1A.

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