ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.820-14C>G

gnomAD frequency: 0.00001  dbSNP: rs1252422114
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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 RCV002183759 SCV002480297 likely benign Charcot-Marie-Tooth disease type 2 2021-12-09 criteria provided, single submitter clinical testing

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