ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.2056C>T (p.Leu686=)

gnomAD frequency: 0.00598  dbSNP: rs201969940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462056 SCV000560909 benign Charcot-Marie-Tooth disease type 2 2025-01-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173466 SCV001336555 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704010 SCV005209894 likely benign not provided criteria provided, single submitter not provided

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