ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.389+92_594+1717dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203260 SCV000256750 pathogenic Charcot-Marie-Tooth disease type 4D 2013-05-21 criteria provided, single submitter research NDRG1 is a known gene causing recessive CMT4D. This study showed a homozygous intragenic duplication in NDRG1.

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