ClinVar Miner

Submissions for variant NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)

dbSNP: rs1555734932
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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 RCV000664224 SCV000787786 likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 2018-04-25 no assertion criteria provided clinical testing

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