ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.1594-20C>A

gnomAD frequency: 0.00010  dbSNP: rs201996397
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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 RCV001172725 SCV001335791 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002068066 SCV002447260 likely benign Charcot-Marie-Tooth disease type 4 2024-01-04 criteria provided, single submitter clinical testing

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