ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.305+17T>G

gnomAD frequency: 0.00013  dbSNP: rs763308680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173455 SCV001336544 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067849 SCV002394620 likely benign Charcot-Marie-Tooth disease type 2 2024-10-07 criteria provided, single submitter clinical testing

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