ClinVar Miner

Submissions for variant NM_001281747.2(MLIP):c.2530C>T (p.Arg844Ter)

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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 RCV004813206 SCV005438189 pathogenic Intellectual developmental disorder, autosomal dominant 64 2024-12-17 criteria provided, single submitter clinical testing
OMIM RCV002463385 SCV002757798 pathogenic Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2024-10-18 no assertion criteria provided literature only

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