ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.177+5G>A

dbSNP: rs1555968723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000663340 SCV003808826 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2019-09-12 criteria provided, single submitter clinical testing
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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