ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.3G>A (p.Met1Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988741 SCV004804894 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2024-03-17 criteria provided, single submitter research

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