ClinVar Miner

Submissions for variant NM_139284.3(LGI4):c.830G>C (p.Gly277Ala)

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Total submissions: 1
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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 RCV004764468 SCV005373909 uncertain significance Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 2024-09-22 criteria provided, single submitter clinical testing

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