ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.689-3C>T (rs199623358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535644 SCV000657770 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172675 SCV001335739 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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