ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.895-139G>A

gnomAD frequency: 0.27599  dbSNP: rs11568183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527175 SCV001738113 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001725223 SCV001960302 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001725223 SCV005275844 benign not provided criteria provided, single submitter not provided

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