ClinVar Miner

Submissions for variant NM_139284.3(LGI4):c.834del (p.Ser279fs)

dbSNP: rs1600470099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000984971 SCV005373910 likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 2024-09-22 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984971 SCV001132893 likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 2019-08-25 no assertion criteria provided clinical testing

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