ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.648C>A (p.Ala216=)

gnomAD frequency: 0.00004  dbSNP: rs765062227
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 RCV001398891 SCV001600673 likely benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831418 SCV002076181 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-03-01 no assertion criteria provided clinical testing

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