ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.819C>G (p.Phe273Leu)

dbSNP: rs2061767679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV001090092 SCV001244268 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2019-07-05 criteria provided, single submitter research
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001090092 SCV001244941 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 no assertion criteria provided clinical testing

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