ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.342C>A (p.Ile114=)

dbSNP: rs367931150
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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 RCV003582317 SCV004365663 likely benign Charcot-Marie-Tooth disease type 2 2023-09-17 criteria provided, single submitter clinical testing

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