ClinVar Miner

Submissions for variant NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) (rs1601814238)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV001003348 SCV001161451 likely pathogenic Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy 2020-09-30 criteria provided, single submitter research

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