ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.404+16A>G

gnomAD frequency: 0.00026  dbSNP: rs190980102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191673 SCV002490817 benign Charcot-Marie-Tooth disease type 2 2024-11-10 criteria provided, single submitter clinical testing

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