ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys)

gnomAD frequency: 0.00001  dbSNP: rs373419167
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003329395 SCV004036473 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001278851 SCV001465897 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2020-09-04 no assertion criteria provided clinical testing

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