ClinVar Miner

Submissions for variant NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) (rs730882140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000161909 SCV000211939 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2014-11-04 no assertion criteria provided literature only
GeneReviews RCV000192266 SCV000239914 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192266 SCV000928439 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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