ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1071C>T (p.Ser357=)

gnomAD frequency: 0.00001  dbSNP: rs1270153559
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 RCV001396823 SCV001598561 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826194 SCV002076169 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-01-10 no assertion criteria provided clinical testing

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