ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.894+199C>T

gnomAD frequency: 0.11704  dbSNP: rs5771142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527176 SCV001738114 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001720298 SCV001948265 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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