ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)

dbSNP: rs1131692233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000495879 SCV000583968 likely pathogenic Hereditary spastic paraplegia 10 2017-07-20 no assertion criteria provided clinical testing SPG10

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