ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)

dbSNP: rs121908341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004978 SCV000800492 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2017-02-01 criteria provided, single submitter clinical testing
OMIM RCV000004978 SCV000025154 pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1 2001-04-01 no assertion criteria provided literature only

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