ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.486C>T (p.Ile162=)

gnomAD frequency: 0.00002  dbSNP: rs754667390
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000941012 SCV001086888 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826986 SCV002076186 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-11-19 no assertion criteria provided clinical testing

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