ClinVar Miner

Submissions for variant NM_015166.3(MLC1):c.177+5G>A (rs1555968723)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000663340 SCV000784591 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-06-25 no assertion criteria provided clinical testing The observed variant c.177+5G>A has not been reported in 1000 Genomes and ExAc Database. The In silico prediction of the variant is damaging by MutationTaster2.

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