ClinVar Miner

Submissions for variant NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM RCV000735278 SCV000851994 pathogenic Charcot-Marie-Tooth disease, type 4A 2018-11-07 no assertion criteria provided clinical testing The patient carry an homozygote entire deletion of the GDAP1 gene. Father carry the deletion in heterozygote state, mother was not available.

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