ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.791del (p.Pro264fs)

dbSNP: rs1558863350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000754868 SCV000882702 uncertain significance Hereditary spastic paraplegia 31 2019-02-08 no assertion criteria provided research

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