ClinVar Miner

Submissions for variant NM_004522.3(KIF5C):c.1018G>A (p.Glu340Lys)

dbSNP: rs1574791491
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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, Cologne University RCV000790846 SCV000930025 likely benign Complex cortical dysplasia with other brain malformations 2 no assertion criteria provided clinical testing

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