ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.263-9C>A

gnomAD frequency: 0.00001  dbSNP: rs200746130
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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 RCV002128572 SCV002457355 likely benign Charcot-Marie-Tooth disease type 4 2024-11-11 criteria provided, single submitter clinical testing

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