ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1344C>T (p.Tyr448=)

dbSNP: rs2100848957
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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 RCV002206366 SCV002495375 likely benign Charcot-Marie-Tooth disease type 2 2021-01-26 criteria provided, single submitter clinical testing

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