ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.77T>G (p.Leu26Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051693 SCV005679116 likely pathogenic Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 2024-02-16 criteria provided, single submitter clinical testing

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