ClinVar Miner

Submissions for variant NM_007289.4(MME):c.2053C>T (p.Leu685=)

gnomAD frequency: 0.00019  dbSNP: rs145715236
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 RCV000919801 SCV001065155 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000919801 SCV001824442 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing

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