ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.222C>T (p.Asn74=)

gnomAD frequency: 0.00001  dbSNP: rs759148867
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978623 SCV001126554 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000978623 SCV005206633 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274274 SCV001458245 likely benign Megalencephalic leukoencephalopathy with subcortical cysts 2020-09-16 no assertion criteria provided clinical testing

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