ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)

dbSNP: rs761502278
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263681 SCV001441773 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2019-12-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001263681 SCV002023478 likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-03-06 criteria provided, single submitter clinical testing

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