ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.771+160T>C

gnomAD frequency: 0.11739  dbSNP: rs2076133
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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 RCV001527224 SCV001738170 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001685425 SCV001903894 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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