ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.256G>C (p.Ala86Pro)

dbSNP: rs2062186870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001172536 SCV001250670 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 no assertion criteria provided clinical testing

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