ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.678C>T (p.Leu226=)

gnomAD frequency: 0.00003  dbSNP: rs770604129
Minimum review status: Collection method:
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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 RCV001479941 SCV001684249 likely benign Charcot-Marie-Tooth disease type 2 2024-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411854 SCV004140463 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MED25: BP4, BP7

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