ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1026C>G (p.Thr342=)

gnomAD frequency: 0.00003  dbSNP: rs201417187
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 RCV000978620 SCV001126551 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827086 SCV002076172 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-10-26 no assertion criteria provided clinical testing

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