ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.714+28G>A

gnomAD frequency: 0.37585  dbSNP: rs2038048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247082 SCV000315901 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527228 SCV001738174 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001683133 SCV001899880 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683133 SCV005275857 benign not provided criteria provided, single submitter not provided

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