ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.177+77G>A

gnomAD frequency: 0.02752  dbSNP: rs55751312
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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 RCV001527234 SCV001738183 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714255 SCV005275869 benign not provided criteria provided, single submitter not provided

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