ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.639dup (p.Ile214fs)

dbSNP: rs1449444164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822161 SCV002064513 pathogenic not provided 2020-01-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475101 SCV004195009 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2022-12-25 criteria provided, single submitter clinical testing

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