ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.404T>C (p.Leu135Pro)

dbSNP: rs1258044054
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661966 SCV000784297 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2018-03-05 criteria provided, single submitter clinical testing

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