ClinVar Miner

Submissions for variant NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) (rs199927590)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144864 SCV000172135 likely pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research

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