ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.120G>A (p.Ser40=)

gnomAD frequency: 0.00007  dbSNP: rs557978926
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 RCV000929470 SCV001075101 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832107 SCV002081610 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-02-10 no assertion criteria provided clinical testing

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